Search results for: patient pathway
1019 Indenyl and Allyl Palladates: Synthesis, Bonding, and Anticancer Activity
Authors: T. Scattolin, E. Cavarzerani, F. Visentin, F. Rizzolio
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Organopalladium compounds have recently attracted attention for their high stability even under physiological conditions and, above all, for their remarkable in vitro cytotoxicity towards cisplatin-resistant cell lines. Among the organopalladium derivatives, those bearing at least one N-heterocyclic carbene ligand (NHC) and the Pd(II)-η³-allyl fragment have exhibited IC₅₀ values in the micro and sub-micromolar range towards several cancer cell lines in vitro and in some cases selectivity towards cancerous vs. non-tumorigenic cells. Herein, a selection of allyl and indenyl palladates were synthesized using a solvent-free method consisting of grinding the corresponding palladium precursors with different saturated and unsaturated azolium salts. All compounds have been fully characterized by NMR, XRD and elemental analyses. The intramolecular H, Cl interaction has been elucidated and quantified using the Voronoi Deformation Density scheme. Most of the complexes showed excellent cytotoxicity towards ovarian cancer cell lines, with I₅₀ values comparable to or even lower than cisplatin. Interestingly, the potent anticancer activity was also confirmed in a high-serous ovarian cancer (HGSOC) patient-derived tumoroid, with a clear superiority of this class of compounds over classical platinum-based agents. Finally, preliminary enzyme inhibition studies of the synthesized palladate complexes against the model TrxR show that the compounds have high activity comparable to or even higher than auranofin and classical Au(I) NHC complexes. Based on such promising data, further in vitro and in vivo experiments and in-depth mechanistic studies are ongoing in our laboratories.Keywords: anticancer activity, palladium complexes, organoids, indenyl and allyl ligands
Procedia PDF Downloads 941018 Computer Aided Shoulder Prosthesis Design and Manufacturing
Authors: Didem Venus Yildiz, Murat Hocaoglu, Murat Dursun, Taner Akkan
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The shoulder joint is a more complex structure than the hip or knee joints. In addition to the overall complexity of the shoulder joint, two different factors influence the insufficient outcome of shoulder replacement: the shoulder prosthesis design is far from fully developed and it is difficult to place these shoulder prosthesis due to shoulder anatomy. The glenohumeral joint is the most complex joint of the human shoulder. There are various treatments for shoulder failures such as total shoulder arthroplasty, reverse total shoulder arthroplasty. Due to its reverse design than normal shoulder anatomy, reverse total shoulder arthroplasty has different physiological and biomechanical properties. Post-operative achievement of this arthroplasty is depend on improved design of reverse total shoulder prosthesis. Designation achievement can be increased by several biomechanical and computational analysis. In this study, data of human both shoulders with right side fracture was collected by 3D Computer Tomography (CT) machine in dicom format. This data transferred to 3D medical image processing software (Mimics Materilise, Leuven, Belgium) to reconstruct patient’s left and right shoulders’ bones geometry. Provided 3D geometry model of the fractured shoulder was used to constitute of reverse total shoulder prosthesis by 3-matic software. Finite element (FE) analysis was conducted for comparison of intact shoulder and prosthetic shoulder in terms of stress distribution and displacements. Body weight physiological reaction force of 800 N loads was applied. Resultant values of FE analysis was compared for both shoulders. The analysis of the performance of the reverse shoulder prosthesis could enhance the knowledge of the prosthetic design.Keywords: reverse shoulder prosthesis, biomechanics, finite element analysis, 3D printing
Procedia PDF Downloads 1561017 Audit on Compliance with Ottawa Ankle Rules in Ankle Radiograph Requests
Authors: Daud Muhammad
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Introduction: Ankle radiographs are frequently requested in Emergency Departments (ED) for patients presenting with traumatic ankle pain. The Ottawa Ankle Rules (OAR) serve as a clinical guideline to determine the necessity of these radiographs, aiming to reduce unnecessary imaging. This audit was conducted to evaluate the adequacy of clinical information provided in radiograph requests in relation to the OAR. Methods: A retrospective analysis was performed on 50 consecutive ankle radiograph requests under ED clinicians' names for patients aged above 5 years, specifically excluding follow-up radiographs for known fractures. The study assessed whether the provided clinical information met the criteria outlined by the OAR. Results: The audit revealed that none of the 50 radiograph requests contained sufficient information to satisfy the Ottawa Ankle Rules. Furthermore, 10 out of the 50 radiographs (20%) identified fractures. Discussion: The findings indicate a significant lack of adherence to the OAR, suggesting potential overuse of radiography and unnecessary patient exposure to radiation. This non-compliance may also contribute to increased healthcare costs and resource utilization, as well as possible delays in diagnosis and treatment. Recommendations: To address these issues, the following recommendations are proposed: (1) Education and Training: Enhance awareness and training among ED clinicians regarding the OAR. (2) Standardised Request Forms: Implement changes to imaging request forms to mandate relevant information according to the OAR. (3) Scan Vetting: Promote awareness among radiographers to discuss the appropriateness of scan requests with clinicians. (4) Regular re-audits should be conducted to monitor improvements in compliance.Keywords: Ottawa ankle rules, ankle radiographs, emergency department, traumatic pain
Procedia PDF Downloads 451016 Quality of Life and Self-Assessed Health of Methadone – Maintained Opiate Addicts
Authors: Brajevic-gizdic Igna, Vuletic Gorka
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Introduction: Research in opiate addiction is increasingly indicating the importance of substitution therapy in opiate addicts. Opiate addiction is a chronic relapsing disease that includes craving as a criterion. Craving has been considered a predictor of a relapse, which is defined as a strong desire with an excessive need to take a substance. The study aimed to measure the intensity of craving using the VAS (visual analog scale) in opioid addicts taking the Opioid Substitution Therapy (OST). Method: The total sample compromised of 30 participants in outpatient treatment. Two groups of opiate addicts were considered: Methadone-maintenance and buprenorphine-maintenance addicts. The participants completed the survey questionnaire during the outpatient treatment. Results: The results indicated high levels of cravings in patients during the treatment on OST, which is considered an important destabilization factor in abstinence. Thus, the use of methadone/buprenorphine dose should be considered. Conclusion: These findings provided an objective measurement of methadone /buprenorphine dosage and therapy options. The underdoes of OST can put patients at high risk of relapse, resulting in high levels of craving. Thus, when determining the therapeutic dose of OST, it is crucial to consider patients´ craving. This would achieve stabilization more quickly and avoid relapse in abstinence. Subjective physician assessment and patient’s statement are the main criteria to determine OST dosage. Future studies should use larger sample sizes and focus on the importance of intensity craving measurement on OST to objectify methadone /buprenorphine dosage.Keywords: abstinence, addicts, methadone, OST, quality of life
Procedia PDF Downloads 911015 Liquid Chromatography Microfluidics for Detection and Quantification of Urine Albumin Using Linear Regression Method
Authors: Patricia B. Cruz, Catrina Jean G. Valenzuela, Analyn N. Yumang
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Nearly a hundred per million of the Filipino population is diagnosed with Chronic Kidney Disease (CKD). The early stage of CKD has no symptoms and can only be discovered once the patient undergoes urinalysis. Over the years, different methods were discovered and used for the quantification of the urinary albumin such as the immunochemical assays where most of these methods require large machinery that has a high cost in maintenance and resources, and a dipstick test which is yet to be proven and is still debated as a reliable method in detecting early stages of microalbuminuria. This research study involves the use of the liquid chromatography concept in microfluidic instruments with biosensor as a means of separation and detection respectively, and linear regression to quantify human urinary albumin. The researchers’ main objective was to create a miniature system that quantifies and detect patients’ urinary albumin while reducing the amount of volume used per five test samples. For this study, 30 urine samples of unknown albumin concentrations were tested using VITROS Analyzer and the microfluidic system for comparison. Based on the data shared by both methods, the actual vs. predicted regression were able to create a positive linear relationship with an R2 of 0.9995 and a linear equation of y = 1.09x + 0.07, indicating that the predicted values and actual values are approximately equal. Furthermore, the microfluidic instrument uses 75% less in total volume – sample and reagents combined, compared to the VITROS Analyzer per five test samples.Keywords: Chronic Kidney Disease, Linear Regression, Microfluidics, Urinary Albumin
Procedia PDF Downloads 1361014 MAGE-A3 and PRAME Gene Expression and EGFR Mutation Status in Non-Small-Cell Lung Cancer
Authors: Renata Checiches, Thierry Coche, Nicolas F. Delahaye, Albert Linder, Fernando Ulloa Montoya, Olivier Gruselle, Karen Langfeld, An de Creus, Bart Spiessens, Vincent G. Brichard, Jamila Louahed, Frédéric F. Lehmann
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Background: The RNA-expression levels of cancer-testis antigens MAGE A3 and PRAME were determined in resected tissue from patients with primary non-small-cell lung cancer (NSCLC) and related to clinical outcome. EGFR, KRAS and BRAF mutation status was determined in a subset to investigate associations with MAGE A3 and PRAME expression. Methods: We conducted a single-centre, uncontrolled, retrospective study of 1260 tissue-bank samples from stage IA-III resected NSCLC. The prognostic value of antigen expression (qRT-PCR) was determined by hazard-ratio and Kaplan-Meier curves. Results: Thirty-seven percent (314/844) of tumours expressed MAGE-A3, 66% (723/1092) expressed PRAME and 31% (239/839) expressed both. Respective frequencies in squamous-cell tumours and adenocarcinomas were 43%/30% for MAGE A3 and 80%/44% for PRAME. No correlation with stage, tumour size or patient age was found. Overall, no prognostic value was identified for either antigen. A trend to poorer overall survival was associated with MAGE-A3 in stage IIIB and with PRAME in stage IB. EGFR and KRAS mutations were found in 10.1% (28/311) and 33.8% (97/311) of tumours, respectively. EGFR (but not KRAS) mutation status was negatively associated with PRAME expression. Conclusion: No clear prognostic value for either PRAME or MAGE A3 was observed in the overall population, although some observed trends may warrant further investigation.Keywords: MAGE A3, PRAME, cancer-testis gene, NSCLC, survival, EGFR
Procedia PDF Downloads 3821013 pH-Responsive Carrier Based on Polymer Particle
Authors: Florin G. Borcan, Ramona C. Albulescu, Adela Chirita-Emandi
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pH-responsive drug delivery systems are gaining more importance because these systems deliver the drug at a specific time in regards to pathophysiological necessity, resulting in improved patient therapeutic efficacy and compliance. Polyurethane materials are well-known for industrial applications (elastomers and foams used in different insulations and automotive), but they are versatile biocompatible materials with many applications in medicine, as artificial skin for the premature neonate, membrane in the hybrid artificial pancreas, prosthetic heart valves, etc. This study aimed to obtain the physico-chemical characterization of a drug delivery system based on polyurethane microparticles. The synthesis is based on a polyaddition reaction between an aqueous phase (mixture of polyethylene-glycol M=200, 1,4-butanediol and Tween® 20) and an organic phase (lysin-diisocyanate in acetone) combined with simultaneous emulsification. Different active agents (omeprazole, amoxicillin, metoclopramide) were used to verify the release profile of the macromolecular particles in different pH mediums. Zetasizer measurements were performed using an instrument based on two modules: a Vasco size analyzer and a Wallis Zeta potential analyzer (Cordouan Technol., France) in samples that were kept in various solutions with different pH and the maximum absorbance in UV-Vis spectra were collected on a UVi Line 9,400 Spectrophotometer (SI Analytics, Germany). The results of this investigation have revealed that these particles are proper for a prolonged release in gastric medium where they can assure an almost constant concentration of the active agents for 1-2 weeks, while they can be disassembled faster in a medium with neutral pHs, such as the intestinal fluid.Keywords: lysin-diisocyanate, nanostructures, polyurethane, Zetasizer
Procedia PDF Downloads 1841012 Addressing Ophthalmic and Vascular Diabetic Complications in South Asians
Authors: Haaris Khan, Farhad Udwadia
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South Asians are the fastest-growing immigrant population in Canada and are 3-4 times more likely to develop diabetes. In a primary care setting, language barriers continue to persist as a prominent obstacle when delivering crucial health information. Given the abundance of languages in the South Asian community and the varying levels of English fluency, there is compelling evidence that these language barriers can adversely impact health outcomes. The microvascular and macrovascular complications of poor diabetic management are well established and universally recognized. However, these are often difficult concepts to grasp for even individuals fluent in English. In order to lessen the burden of language barriers, we developed a comprehensive guide in various languages that discuss the complications and screening guidelines for diabetic and prediabetic patients. The guide is presented in the form of a pamphlet, with an electronic version being constructed as well, that provides basic information on diabetic retinopathy, neuropathy and nephropathy as well as the screening recommendations. We also conducted a review of the literature around the topic and incorporated our findings into our project. Our goal is for primary care physicians to have this resource and to be able to provide the link or pamphlet to patients in need. Our presentation also provides a comprehensive overview of some of the other barriers that individuals in the South Asian community face when seeking care. Given the staggering number of individuals in the South Asian community with diabetes and the morbidity and mortality associated with diabetes and its complications, effective community-specific strategies are needed to mitigate the potential consequences of poor diabetes management.Keywords: diabetes, patient education, ophthalmology, vascular surgery
Procedia PDF Downloads 2071011 Biocellulose Template for 3D Mineral Scaffolds
Authors: C. Busuioc, G. Voicu, S. I. Jinga
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The field of tissue engineering brings new challenges in terms of proposing original solutions for ongoing medical issues, improving the biological performances of existing clinical systems and speeding the healing process for a faster recovery and a more comfortable life as patient. In this context, we propose the obtaining of 3D porous scaffolds of mineral nature, dedicated to bone repairing and regeneration purposes or employed as bioactive filler for bone cements. Thus, bacterial cellulose - calcium phosphates composite materials have been synthesized by successive immersing of the polymeric membranes in the precursor solution containing Ca2+ and [PO4]3- ions. The mineral phase deposited on the surface of biocellulose fibers was varied as amount through the number of immersing cycles. The intermediary composites were subjected to thermal treatments at different temperatures in order to remove the organic part and provide the formation of a self-sustained 3D architecture. The resulting phase composition consists of common phosphates, while the morphology largely depends on the preparation parameters. Thus, the aspect of the 3D mineral scaffolds can be tuned from a loose microstructure composed of large grains connected via monocrystalline nanorods to a trabecular pattern crossed by parallel internal channels, just like the natural bone. The bioactivity and biocompatibility of the obtained materials have been also assessed, with encouraging results in the clinical use direction. In conclusion, the compositional, structural, morphological and biological characterizations sustain the suitability of the reported biostructures for integration in hard tissue engineering applications.Keywords: bacterial cellulose, bone reconstruction, calcium phosphates, mineral scaffolds
Procedia PDF Downloads 1951010 Toxicological Standardization of Heavy Metals and Microbial Contamination Haematinic Herbal Formulations Marketed in India
Authors: A. V. Chandewar, Sanjay Bais
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Backgound: In India, drugs of herbal origin have been used in traditional systems of medicines such as Unani and Ayurveda since ancient times. WHO limit for Escherichia coli is 101/gm cfu, for Staphylococus aureus 105/gm cfu, and for Pseudomonas aeruginosa 103/gm cfu and for Salmonella species nil cfu. WHO mentions maximum permissible limits in raw materials only for arsenic, cadmium, and lead, which amount to 1.0, 0.3, and 10 ppm, respectively. Aim: The main purpose of the investigation was to document evidence for the users, and practitioners of marketed haematinic herbal formulations. In the present study haematinic herbal formulations marketed in Yavatmal India were determined for the presence of microbial and heavy metal content. Method: The investigations were performed by using specific medias and atomic absorption spectrometry. Result: The present work indicates the presence of heavy metal contents in herbal formulations selected for study. It was found that arsenic content in formulations was below the permissible limit in all formulations. The cadmium and lead content in six formulations were above the permissible limits. Such formulations are injurious to health of patient if consumed regularly. The specific medias were used to determining the presence of Escherichia coli 4 samples, Staphylococcus aureus 3 samples, and P. aeruginosa 4 samples. The data indicated suggest that there is requirement of in process improvement to provide better quality for consumer health in order to be competitive in international markets. Summary/Conclusion: The presence of microbial and heavy metal content above WHO limits indicates that the GMP was not followed during manufacturing of herbal formulations marketed in India.Keywords: toxicological standardization, heavy metals, microbial contamination, haematinic herbal formulations
Procedia PDF Downloads 4481009 Development of a Consult Liaison Psychology Service: A Systematic Review
Authors: Ben J. Lippe
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Consult Liaison Psychology services are overgrowing, given the robust empirical support of the utility of this service in hospital settings. These psychological services, including clinical assessment, applied psychotherapy, and consultation with other healthcare providers, have been shown to improve health outcomes for patients and bolster important areas of administrative interest such as decreased length of patient admission. However, there is little descriptive literature outlining the process and mechanisms of building or developing a Consult Liaison Psychology service. The main findings of this current conceptual work are intended to be clear in nature to elucidate the essential methods involved in developing consult liaison psychology programs, including thorough reviews of relevant behavioral health literature and inclusion of experiential outcomes. The diverse range of hospital settings and healthcare systems makes a “blueprint” method of program development challenging to define, yet important structural frameworks presented here based on the relevant literature and applied practice can help lay critical groundwork for program development in this growing area of psychological service. This conceptual approach addresses the prominent processes, as well as common programmatic and clinical pitfalls, involved in the event of a Consult Liaison Psychology service. This paper, including a systematic review of relevant literature, is intended to serve as a key program development reference for the development of Consult Liaison Psychology services, other related behavioral health programs, and to help inform further research efforts.Keywords: behavioral health, consult liaison, health psychology, psychology program development
Procedia PDF Downloads 1581008 Spatial Distribution and Time Series Analysis of COVID-19 Pandemic in Italy: A Geospatial Perspective
Authors: Muhammad Farhan Ul Moazzam, Tamkeen Urooj Paracha, Ghani Rahman, Byung Gul Lee, Nasir Farid, Adnan Arshad
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The novel coronavirus pandemic disease (COVID-19) affected the whole globe, though there is a lack of clinical studies and its epidemiological features. But as per the observation, it has been seen that most of the COVID-19 infected patients show mild to moderate symptoms, and they get better without any medical assistance due to a better immune system to generate antibodies against the novel coronavirus. In this study, the active cases, serious cases, recovered cases, deaths and total confirmed cases had been analyzed using the geospatial inverse distance weightage technique (IDW) within the time span of 2nd March to 3rd June 2020. As of 3rd June, the total number of COVID-19 cases in Italy were 231,238, total deaths 33,310, serious cases 350, recovered cases 158,951, and active cases were 39,177, which has been reported by the Ministry of Health, Italy. March 2nd-June 3rd, 2020 a sum of 231,238 cases has been reported in Italy out of which 38.68% cases reported in the Lombardia region with a death rate of 18%, which is high from its national mortality rate followed by Emilia-Romagna (14.89% deaths), Piemonte (12.68% deaths), and Vento (10% deaths). As per the total cases in the region, the highest number of recoveries has been observed in Umbria (92.52%), followed by Basilicata (87%), Valle d'Aosta (86.85%), and Trento (84.54%). The COVID-19 evolution in Italy has been particularly found in the major urban area, i.e., Rome, Milan, Naples, Bologna, and Florence. Geospatial technology played a vital role in this pandemic by tracking infected patient, active cases, and recovered cases. Geospatial techniques are very important in terms of monitoring and planning to control the pandemic spread in the country.Keywords: COVID-19, public health, geospatial analysis, IDW, Italy
Procedia PDF Downloads 1541007 Empowering Transformers for Evidence-Based Medicine
Authors: Jinan Fiaidhi, Hashmath Shaik
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Breaking the barrier for practicing evidence-based medicine relies on effective methods for rapidly identifying relevant evidence from the body of biomedical literature. An important challenge confronted by medical practitioners is the long time needed to browse, filter, summarize and compile information from different medical resources. Deep learning can help in solving this based on automatic question answering (Q&A) and transformers. However, Q&A and transformer technologies are not trained to answer clinical queries that can be used for evidence-based practice, nor can they respond to structured clinical questioning protocols like PICO (Patient/Problem, Intervention, Comparison and Outcome). This article describes the use of deep learning techniques for Q&A that are based on transformer models like BERT and GPT to answer PICO clinical questions that can be used for evidence-based practice extracted from sound medical research resources like PubMed. We are reporting acceptable clinical answers that are supported by findings from PubMed. Our transformer methods are reaching an acceptable state-of-the-art performance based on two staged bootstrapping processes involving filtering relevant articles followed by identifying articles that support the requested outcome expressed by the PICO question. Moreover, we are also reporting experimentations to empower our bootstrapping techniques with patch attention to the most important keywords in the clinical case and the PICO questions. Our bootstrapped patched with attention is showing relevancy of the evidence collected based on entropy metrics.Keywords: automatic question answering, PICO questions, evidence-based medicine, generative models, LLM transformers
Procedia PDF Downloads 431006 Overview of Pre-Analytical Lab Errors in a Tertiary Care Hospital at Rawalpindi, Pakistan
Authors: S. Saeed, T. Butt, M. Rehan, S. Khaliq
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Objective: To determine the frequency of pre-analytical errors in samples taken from patients for various lab tests at Fauji Foundation Hospital, Rawalpindi. Material and Methods: All the lab specimens for diagnostic purposes received at the lab from Fauji Foundation hospital, Rawalpindi indoor and outdoor patients were included. Total number of samples received in the lab is recorded in the computerized program made for the hospital. All the errors observed for pre-analytical process including patient identification, sampling techniques, test collection procedures, specimen transport/processing and storage were recorded in the log book kept for the purpose. Results: A total of 476616 specimens were received in the lab during the period of study including 237931 and 238685 from outdoor and indoor patients respectively. Forty-one percent of the samples (n=197976) revealed pre-analytical discrepancies. The discrepancies included Hemolyzed samples (34.8%), Clotted blood (27.8%), Incorrect samples (17.4%), Unlabeled samples (8.9%), Insufficient specimens (3.9%), Request forms without authorized signature (2.9%), Empty containers (3.9%) and tube breakage during centrifugation (0.8%). Most of these pre-analytical discrepancies were observed in samples received from the wards revealing that inappropriate sample collection by the medical staff of the ward, as most of the outdoor samples are collected by the lab staff who are properly trained for sample collection. Conclusion: It is mandatory to educate phlebotomists and paramedical staff particularly performing duties in the wards regarding timing and techniques of sampling/appropriate container to use/early delivery of the samples to the lab to reduce pre-analytical errors.Keywords: pre analytical lab errors, tertiary care hospital, hemolyzed, paramedical staff
Procedia PDF Downloads 2041005 Identification of the Target Genes to Increase the Immunotherapy Response in Bladder Cancer Patients using Computational and Experimental Approach
Authors: Sahar Nasr, Lin Li, Edwin Wang
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Bladder cancer (BLCA) is known as the 13th cause of death among cancer patients worldwide, and ~575,000 new BLCA cases are diagnosed each year. Urothelial carcinoma (UC) is the most prevalent subtype among BLCA patients, which can be categorized into muscle-invasive bladder cancer (MIBC) and non-muscle-invasive bladder cancer (NMIBC). Currently, various therapeutic options are available for UC patients, including (1) transurethral resection followed by intravesical instillation of chemotherapeutics or Bacillus Calmette-Guérin for NMIBC patients, (2) neoadjuvant platinum-based chemotherapy (NAC) plus radical cystectomy is the standard of care for localized MIBC patients, and (3) systematic chemotherapy for metastatic UC. However, conventional treatments may lead to several challenges for treating patients. As an illustration, some patients may suffer from recurrence of the disease after the first line of treatment. Recently, immune checkpoint therapy (ICT) has been introduced as an alternative treatment strategy for the first or second line of treatment in advanced or metastatic BLCA patients. Although ICT showed lucrative results for a fraction of BLCA patients, ~80% of patients were not responsive to it. Therefore, novel treatment methods are required to augment the ICI response rate within BLCA patients. It has been shown that the infiltration of T-cells into the tumor microenvironment (TME) is positively correlated with the response to ICT within cancerous patients. Therefore, the goal of this study is to enhance the infiltration of cytotoxic T-cells into TME through the identification of target genes within the tumor that are responsible for the non-T-cell inflamed TME and their inhibition. BLCA bulk RNA-sequencing data from The Cancer Genome Atlas (TCGA) and immune score for TCGA samples were used to determine the Pearson correlation score between the expression of different genes and immune score for each sample. The genes with strong negative correlations were selected (r < -0.2). Thereafter, the correlation between the expression of each gene and survival in BLCA patients was calculated using the TCGA data and Cox regression method. The genes that are common in both selected gene lists were chosen for further analysis. Afterward, BLCA bulk and single-cell RNA-sequencing data were ranked based on the expression of each selected gene and the top and bottom 25% samples were used for pathway enrichment analysis. If the pathways related to the T-cell infiltration (e.g., antigen presentation, interferon, or chemokine pathways) were enriched within the low-expression group, the gene was included for downstream analysis. Finally, the selected genes will be used to calculate the correlation between their expression and the infiltration rate of the activated CD+8 T-cells, natural killer cells and the activated dendric cells. A list of potential target genes has been identified and ranked based on the above-mentioned analysis and criteria. SUN-1 got the highest score within the gene list and other identified genes in the literature as benchmarks. In conclusion, inhibition of SUN1 may increase the tumor-infiltrating lymphocytes and the efficacy of ICI in BLCA patients. BLCA tumor cells with and without SUN-1 CRISPR/Cas9 knockout will be injected into the syngeneic mouse model to validate the predicted SUN-1 effect on increasing tumor-infiltrating lymphocytes.Keywords: data analysis, gene expression analysis, gene identification, immunoinformatic, functional genomics, transcriptomics
Procedia PDF Downloads 1551004 Analyses of Adverse Drug Reactions Reported of Hospital in Taiwan
Authors: Yu-Hong Lin
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Background: An adverse drug reaction (ADR) reported is an injury which caused by taking medicines. Sometimes the severity of ADR reported may be minor, but sometimes it could be a life-threatening situation. In order to provide healthcare professionals as a better reference in clinical practice, we do data collection and analysis from our hospital. Methods: This was a retrospective study of ADRs reported performed from 2014 to 2015 in our hospital in Taiwan. We collected assessment items of ADRs reported, which contain gender and age, occurring sources, Anatomical Therapeutic Chemical (ATC) classification of suspected drugs, types of adverse reactions, Naranjo score calculating by Naranjo Adverse Drug Reaction Probability Scale and so on. Results: The investigation included two hundred and seven ADRs reported. Most of ADRs reported were occurring in outpatient department (92%). The average age of ADRs reported was 65.3 years. Less than 65 years of age were in the majority in this study (54%). Majority of all ADRs reported were males (51%). According to ATC classification system, the major classification of suspected drugs was cardiovascular system (19%) and antiinfectives for systemic use (18%) respectively. Among the adverse reactions, Dermatologic Effects (35%) were the major type of ADRs. Also, the major Naranjo scores of all ADRs reported ranged from 1 to 4 points (91%), which represents a possible correlation between ADRs reported and suspected drugs. Conclusions: Definitely, ADRs reported is still an extremely important information for healthcare professionals. For that reason, we put all information of ADRs reported into our hospital's computer system, and it will improve the safety of medication use. By hospital's computer system, it can remind prescribers to think of information about patient's ADRs reported. No drugs are administered without risk. Therefore, all healthcare professionals should have a responsibility to their patients, who themselves are becoming more aware of problems associated with drug therapy.Keywords: adverse drug reaction, Taiwan, healthcare professionals, safe use of medicines
Procedia PDF Downloads 2301003 Frenotomy for Tongue Tie: The Unlikely Benefit of Massage
Authors: Kailas Bhandarkar, Talib Dar, Laura Karia, Manasvi Upadhyaya
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Introduction: Frenotomy for tongue tie is commonly performed in breastfed infants who experience difficulty in latching after failed conservative management for tongue tie. However, there is no consensus for the routine use of massage following frenotomy. Our aim was to assess the efficacy of massage in preventing recurrence following frenotomy. Methods: The tongue tie service in our tertiary referral hospital consists of 5 consultants and a breastfeeding (BF) midwife. 3 consultants routinely advice massage post procedure. Babies are assessed by the midwife after the procedure and a follow-up consultation after a week. After due ethical approval, data were collected by two staff members who were independent of TT service on a standardized questionnaire to avoid bias. Fischer exact test was employed (p < 0.05 considered significant). Results: Six hundred and thirty-two babies attended the clinic from January 2018 to December 2018. Thirty-three of these were excluded as the procedure was not needed. Parents were contacted at a median of six months post-procedure (range 2-10 months). 282/599 were advised massage. 92/282 could be contacted. 40/ 92 adhered to massage regimen. None of these had a recurrence. 52/92 (54%), although advised, did not perform massage. Reasons cited for lack of adherence to massage included difficulty in performing massaging and conflicting advice given by other health care professionals involved in patient care like paediatricians and group practice and lack of information on the internet). Overall, 4/599 (0.66%) had recurrences, and this difference was not statistically significant. Conclusion: In our experience, the rate of recurrence after frenotomy is low enough for us to conclude that there is no significant benefit of massage after frenotomy for tongue tie. We could also conclude that among parents who were advised massage more than half failed to adhere to the advice.Keywords: tongue tie, frenotomy, massage, recurrence
Procedia PDF Downloads 1341002 Robotic Assisted vs Traditional Laparoscopic Partial Nephrectomy Peri-Operative Outcomes: A Comparative Single Surgeon Study
Authors: Gerard Bray, Derek Mao, Arya Bahadori, Sachinka Ranasinghe
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The EAU currently recommends partial nephrectomy as the preferred management for localised cT1 renal tumours, irrespective of surgical approach. With the advent of robotic assisted partial nephrectomy, there is growing evidence that warm ischaemia time may be reduced compared to the traditional laparoscopic approach. There is still no clear differences between the two approaches with regards to other peri-operative and oncological outcomes. Current limitations in the field denote the lack of single surgeon series to compare the two approaches as other studies often include multiple operators of different experience levels. To the best of our knowledge, this study is the first single surgeon series comparing peri-operative outcomes of robotic assisted and laparoscopic PN. The current study aims to reduce intra-operator bias while maintaining an adequate sample size to assess the differences in outcomes between the two approaches. We retrospectively compared patient demographics, peri-operative outcomes, and renal function derangements of all partial nephrectomies undertaken by a single surgeon with experience in both laparoscopic and robotic surgery. Warm ischaemia time, length of stay, and acute renal function deterioration were all significantly reduced with robotic partial nephrectomy, compared to laparoscopic nephrectomy. This study highlights the benefits of robotic partial nephrectomy. Further prospective studies with larger sample sizes would be valuable additions to the current literature.Keywords: partial nephrectomy, robotic assisted partial nephrectomy, warm ischaemia time, peri-operative outcomes
Procedia PDF Downloads 1411001 Randomized, Controlled Blind Study Comparing Sacroiliac Intra-Articular Steroid Injection to Radiofrequency Denervation for Management of Sacroiliac Joint Pain
Authors: Ossama Salman
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Background and objective: Sacroiliac joint pain is a common cause for chronic axial low back pain, with up to 20% prevalence rate. To date, no effective long-term treatment intervention has been embarked on yet. The aim of our study was to compare steroid block to radiofrequency ablation for SIJ pain conditions. Methods: A randomized, blind, study was conducted in 30 patients with sacroiliac joint pain. Fifteen patients received radiofrequency denervation of L4-5 primary dorsal rami and S1-3 lateral sacral branch, and 15 patients received steroid under fluoroscopy. Those in the steroid group who did not respond to steroid injections were offered to cross over to get radiofrequency ablation. Results: At 1-, 3- and 6-months post-intervention, 73%, 60% and 53% of patients, respectively, gained ≥ 50 % pain relief in the radiofrequency (RF) ablation group. In the steroid group, at one month post intervention follow up, only 20% gained ≥ 50 % pain relief, but failed to show any improvement at 3 months and 6 months follow up. Conclusions: Radiofrequency ablation at L4 and L5 primary dorsal rami and S1-3 lateral sacral branch may provide effective and longer pain relief compared to the classic intra-articular steroid injection, in properly selected patients with suspected sacroiliac joint pain. Larger studies are called for to confirm our results and lay out the optimal patient selection and treatment parameters for this poorly comprehended disorder.Keywords: lateral branch denervation, LBD, radio frequency, RF, sacroiliac joint, SIJ, visual analogue scale, VAS
Procedia PDF Downloads 2191000 Design and Evaluation of Corrective Orthosis Knee for Hyperextension
Authors: Valentina Narvaez Gaitan, Paula K. Rodriguez Ramirez, Derian D. Espinosa
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Corrective orthosis has great importance in orthopedic treatments providing assistance in improving mobility and stability in order to improve the quality of life for a different patient. The corrective orthosis studied in this article can correct deformities, reduce pain, and improve the ability to perform daily activities. This work describes the design and evaluation of a corrective orthosis for knee hyperextension. This orthosis is capable of generating a progressive and variable alignment of the joint, limiting the range of motion according to medical criteria. The main objective was to design a corrective knee orthosis capable of correcting knee hyperextension progressively to return to its natural angle with greater economic affordability and adjustable size. The limiting mechanism is based on a goniometer to determine the desired angles. The orthosis was made of acrylic to reduce costs and maintenance; neoprene is also used to make comfortable contact; additionally, Velcro was used in order to adjust the orthosis for various sizes. Simulations of static and fatigue analysis of the mechanism were performed to verify its resistance and durability under normal conditions. A biomechanical gait study of gait was carried out on 10 healthy subjects without the orthosis and limiting their knee extension capacity in a normal gait cycle with the orthosis to observe the efficiency of the proposed system. In the results obtained, the knee angle curves show that the maximum extension angle was the established angle by the orthosis. Showing the efficiency of the proposed design for different leg sizes.Keywords: biomechanical study, corrective orthosis, efficiency, goniometer, knee hyperextension.
Procedia PDF Downloads 81999 Factors Contributing to Delayed Diagnosis and Treatment of Breast Cancer and Its Outcome in Jamhoriat Hospital Kabul, Afghanistan
Authors: Ahmad Jawad Fardin
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Over 60% of patients with breast cancer in Afghanistan present late with advanced stage III and IV, a major cause for the poor survival rate. The objectives of this study were to identify the contributing factors for the diagnosis and treatment delay and its outcome. This cross-sectional study was conducted on 318 patients with histologically confirmed breast cancer in the oncology department of Jamhoriat hospital, which is the first and only national cancer center in Afghanistan; data were collected from medical records and interviews conducted with women diagnosed with breast cancer, linear regression and logistic regression were used for analysis. Patient delay was defined as the time from first recognition of symptoms until first medical consultation and doctor form first consultation with a health care provider until histological confirmation of breast cancer. The mean age of patients was 49.2+_ 11.5years. The average time for the final diagnosis of breast cancer was 8.5 months; most patients had ductal carcinoma 260.7 (82%). Factors associated with delay were low education level 76% poor socioeconomic and cultural conditions 81% lack of cancer center 73% lack of screening 19%. The stage distribution was as follows stage IV 4 22% stage III 44.4% stage II 29.3% stage I 4.3%. Complex associated factors were identified to delayed the diagnosis of breast cancer and increased adverse outcomes consequently. Raising awareness and education in women, the establishment of cancer centers and providing accessible diagnosis service and screening, training of general practitioners; required to promote early detection, diagnosis and treatment.Keywords: delayed diagnosis and poor outcome, breast cancer in Afghanistan, poor outcome of delayed breast cancer treatment, breast cancer delayed diagnosis and treatment in Afghanistan
Procedia PDF Downloads 182998 The Superiority of 18F-Sodium Fluoride PET/CT for Detecting Bone Metastases in Comparison with Other Bone Diagnostic Imaging Modalities
Authors: Mojtaba Mirmontazemi, Habibollah Dadgar
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Bone is the most common metastasis site in some advanced malignancies, such as prostate and breast cancer. Bone metastasis generally indicates fewer prognostic factors in these patients. Different radiological and molecular imaging modalities are used for detecting bone lesions. Molecular imaging including computed tomography, magnetic resonance imaging, planar bone scintigraphy, single-photon emission tomography, and positron emission tomography as noninvasive visualization of the biological occurrences has the potential to exact examination, characterization, risk stratification and comprehension of human being diseases. Also, it is potent to straightly visualize targets, specify clearly cellular pathways and provide precision medicine for molecular targeted therapies. These advantages contribute implement personalized treatment for each patient. Currently, NaF PET/CT has significantly replaced standard bone scintigraphy for the detection of bone metastases. On one hand, 68Ga-PSMA PET/CT has gained high attention for accurate staging of primary prostate cancer and restaging after biochemical recurrence. On the other hand, FDG PET/CT is not commonly used in osseous metastases of prostate and breast cancer as well as its usage is limited to staging patients with aggressive primary tumors or localizing the site of disease. In this article, we examine current studies about FDG, NaF, and PSMA PET/CT images in bone metastases diagnostic utility and assess response to treatment in patients with breast and prostate cancer.Keywords: skeletal metastases, fluorodeoxyglucose, sodium fluoride, molecular imaging, precision medicine, prostate cancer (68Ga-PSMA-11)
Procedia PDF Downloads 110997 The Effectiveness of Kinesiotaping Methods in Rehabilitation Therapy
Authors: Ana-Katarina Nikich
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Background: The kinesiotaping method is often used in physiotherapy and rehabilitation. The purpose of this study was to evaluate the effectiveness of taping in the rehabilitation process of patients. Materials and methods: The study involved 90 male and female patients (the average age was 40-50 years) with various conditions requiring rehabilitation, such as injuries of the musculoskeletal system, sports injuries and other ailments. All patients were divided into two groups: experimental (n=40) and control (n=50). Both groups received 20 days of standard rehabilitation. In the experimental group, kinesiotaping methods were used, taking into account the individual characteristics of each patient. The control group performed regular exercises and physical therapy, but without using kinesiotape. During the study, physical parameters were monitored, interviews were conducted and the conditions of patients from both groups were compared. Results and discussion: The use of the kinesiotaping method in the rehabilitation process led to a significant improvement in physical parameters and pain reduction in patients. Significant improvement (p <0.005) was observed in all evaluated parameters among the patients of the experimental group. The control group also showed sufficient improvement (p <0.005), but the percentage of the experimental group was higher. As a result of the observation, the patients of the experimental group showed faster and more complete rehabilitation compared to the control group. The use of the kinesiotaping method allows to reduce the load on the damaged areas, improve blood circulation and lymphatic drainage, as well as increase stability and coordination of movements. Conclusions: Kinesiotaping as one of the modern therapeutic methods has shown its effectiveness in the rehabilitation process, contributing to the optimal recovery of patients with various conditions requiring rehabilitation. The use of tapes should be included in a comprehensive rehabilitation program to achieve the best results and reduce recovery time.Keywords: kinesiotaping, rehabilitation, therapy, pain
Procedia PDF Downloads 71996 Assessing the Use of Fractional Radiofrequency for the Improvement of Skin Texture in Asian Patients
Authors: Mandy W. M. Chan, Samantha Y. N. Shek, Chi K. Yeung, Taro Kono, Henry H. L. Chan
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Fractional radiofrequency devices have shown to improve skin texture such as smoothness, rhytides, brightness as well as atrophic acne scars by increasing dermal thickness, dermal collagen content and dermal fibrillin content. The objective of the study is to assess the efficacy and adverse effects of this device on Asian patients with skin textural changes. In this study, 20 Chinese patients (ranging from 21-60 years old) with irregularities of skin texture, rhytides and acne scars were recruited. Patients received six treatments at 2-4 week intervals. Treatment was initiated with maximum energy tolerated and was adjustable during treatment if patients felt excessive discomfort. A total of two passes were delivered at each session. Physician assessment and standardized photographs were taken at baseline, all treatment visits and at one, two, and six month after final treatment. As a result, 17 patients were recruited and completed the study according to the study protocol. One patient withdrew after the first treatment due to reaction to local anesthesia and two patients were lost to follow-up. At six months follow-up, 71% of the patients were satisfied and 24% were very satisfied, while treatment physician reported various degrees of improvement based on the global assessment scale in 60% of the subjects. Anticipated side effects including erythema, edema, pinpoint bleeding, scabs formation and flare of acne were recorded, but there were no serious adverse effects noted. Conclude up, the use of fractional radiofrequency improves skin texture and appears to be safe in Asian patients. No long-term serious adverse effect was noted.Keywords: Asian, fractional radiogrequency, skin, texture
Procedia PDF Downloads 145995 Early versus Late Percutaneous Tracheostomy in Critically Ill Adult Mechanically Ventilated Patients
Authors: Kamel Abd Elaziz Mohamed, Ahmed Yehia Mousa, Ahmed Samir ElSawy, Adel Mohamed Saleem
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Introduction: Critically ill patients frequently require tracheostomy to simplify long term air way management. While tracheostomy indications have remained unchanged, the timing of elective tracheostomy for the ventilated patient has been questioned. Aim of the work: This study was performed to compare the differences between early and late percutaneous dilatational tracheostomy (PDT) regarding, mechanical ventilation duration (MVD), length of ICU stay, length of hospital stay, incidence of ventilator associated pneumonia and hospital outcome. Patients and methods: Forty patients who met the inclusion criteria were randomly divided into early PDT who had the tracheostomy within the first 10 days of mechanical ventilation (MV) and the late PDT who had the tracheostomy after 10 days of MV. On admission, demographic data and Acute Physiology and Chronic ill Health II and GCS were collected. The duration of mechanical ventilation, ICU length of stay (LOS) and hospital LOS were all calculated. Results: Total of 40 patients were randomized to either early PDT (n= 20) or late PDT (n= 20). There were no significant differences between both groups regarding demographic data or the scores: APACHE II (22.75± 7 vs 24.35 ± 8) and GCS (6.10 ±2 vs 7.10 ± 2.71). An early PDT showed fewer complications vs late procedure, however it was insignificant. There were significant differences between the two groups regarding mean (MVD) which was shorter in early PDT than the late PDT group (32.2± 10.5) vs (20.6 ± 13 days; p= 0.004). Mean ICU stay was shorter in early PDT than late PDT (21 .0± 513.4) vs (40.15 ±12.7 days; p 6 0.001). Mean hospital stay was shorter in early PDT than late PDT (34.60± 18.37) vs (55.60± 25.73 days; p=0.005). Patients with early PDT suffered less sepsis and VAP than late PDT, there was no difference regarding the mortality rate between the two groups. Conclusion: Early PDT is recommended for patients who require prolonged tracheal intubation in the ICU as outcomes like the duration of mechanical ventilation length of ICU stay and hospital stay were significantly shorter in early tracheostomy.Keywords: intensive care unit, early PDT, late PDT, intubation
Procedia PDF Downloads 600994 Evaluating the Effectiveness of Critical Thinking Skills on Job Performance among Neonatal Nurses: A Cross-Sectional Study
Authors: Mehrdad Akbarzadeh, Afsaneh Abrisham
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Introduction: Critical thinking skills are crucial for nurses, particularly those working in neonatal care, where quick and informed decision-making is essential. This study aims to evaluate the effectiveness of critical thinking skills on job performance among neonatal nurses. Methods: A cross-sectional study was conducted with 450 neonatal nurses from a hospital in Mashhad. Participants were assessed using the Critical Thinking Questionnaire (CThQ) to measure their critical thinking abilities across various subscales, including Analyzing, Evaluating, Creating, Remembering, Understanding, and Applying. Additionally, a custom Job Performance Checklist completed by supervising nurses, was used to evaluate job performance across several dimensions. Data were collected and analyzed using SPSS V.23. Correlation analysis was conducted to determine the relationship between critical thinking skills and job performance. Results: The mean age of the nurses was 33.46 ± 14.2 years, with 79.15% being female. The nurses demonstrated high proficiency in critical thinking, with notable scores in the Creating (23.98 ± 4.8), Applying (17.35 ± 3.2), and Evaluating (16.67 ± 3.4) subscales. The results indicate a significant positive correlation between several critical thinking subscales and job performance. The Creating subscale exhibited the strongest correlation (R = 0.79, p < 0.001), followed by Overall CThQ (R = 0.68, p = 0.039) and Evaluating (R = 0.67, p = 0.041). Analyzing (R = 0.45, p = 0.013) and Understanding (R = 0.41, p = 0.015) also showed significant correlations with job performance. Remembering (R = 0.29, p = 0.061) and Applying (R = 0.43, p = 0.057) were not significantly correlated with job performance. Conclusion: The findings indicate that critical thinking skills, especially in creating and evaluating, are strongly associated with job performance in neonatal nurses. Enhancing these skills through targeted training programs could improve job performance, particularly in decision-making and time management. This study underscores the importance of critical thinking in neonatal care and its impact on nursing efficacy and patient outcomes.Keywords: critical thinking, job performance, neonatal nurses, healthcare quality
Procedia PDF Downloads 23993 Laser Corneoplastique™: A Refractive Surgery for Corneal Scars
Authors: Arun C. Gulani, Aaishwariya A. Gulani, Amanda Southall
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Background: Laser Corneoplastique™ as a least interventional, visually promising technique for patients with vision disability from corneal scars of varied causes has been retrospectively reviewed and proves to cause a paradigm shift in mindset and approach towards corneal scars as a Refractive surgery aiming for emmetropic, unaided vision of 20;/20 in most cases. Three decades of work on this technique has been compiled in this 15-year study. Subject and Methods: The objective of this study was to determine the success of Laser Corneoplastique™ surgery as a treatment of corneal scar cases. A survey of corneal scar cases caused by various medical histories that had undergone Laser Corneoplastique™ surgery over the past twenty years by a single surgeon Arun C. Gulani, M.D. were retrospectively reviewed. The details of each of the cases were retrieved from their medical records and analyzed. Each patient had been examined thoroughly at their preoperative appointments for stability of refraction and vision, depth of scar, pachymetry, topography, pattern of the scar and uncorrected and best corrected vision potential, which were all taken into account in the patients' treatment plans. Results: 64 eyes of 53 patients were investigated for scar etiology, keratometry, visual acuity, and complications. There were 25 different etiologies seen, with the most common being a Herpetic scar. The average visual acuity post-op was, on average, 20/23.55 (±7.05). Laser parameters used were depth and pulses. Overall, the mean Laser ablation depth was 30.67 (±19.05), ranging from 2 to 73 µm. Number of Laser pulses averaged 191.85 (±112.02). Conclusion: Refractive Laser Corneoplastique™ surgery, when practiced as an art, can address all levels of ametropia while reversing complex corneas and scars from refractive surgery complications back to 20/20 vision.Keywords: corneal scar, refractive surgery, corneal transplant, laser corneoplastique
Procedia PDF Downloads 189992 The Scope and Effectiveness of Interactive Voice Response Technologies in Post-Operative Care
Authors: Zanib Nafees, Amir Razaghizad, Ibtisam Mahmoud, Abhinav Sharma, Renzo Cecere
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More than one million surgeries are performed each year in Canada, resulting in more than 100,000 associated serious adverse events (SAEs) per year. These are defined as unintended injuries or complications that adversely affect the well-being of patients. In recent years, there has been a proliferation of digital health interventions that have the potential to assist, monitor, and educate patients—facilitating self-care following post-operative discharge. Among digital health, interventions are interactive-voice response technologies (IVRs), which have been shown to be highly effective in certain medical settings. Although numerous IVR-based interventions have been developed, their effectiveness and utility remain unclear, notably in post-operative settings. To the best of our knowledge, no systematic or scoping reviews have evaluated this topic to date. Thus, the objective of this scoping review protocol is to systematically map and explore the literature and evidence describing and examining IVR tools, implementation, evaluation, outcome, and experience for post-operative patients. The focus will be primarily on the evaluation of baseline performance status, clinical assessment, treatment outcomes, and patient management, including self-management and self-monitoring. The objective of this scoping review is to assess the extent of the literature to direct future research efforts by identifying gaps and limitations in the literature and to highlight relevant determinants of positive outcomes in the emerging field of IVR monitoring for health outcomes in post-operative patients.Keywords: digital healthcare technologies, post-surgery, interactive voice technology, interactive voice response
Procedia PDF Downloads 264991 Genome-Wide Analysis Identifies Locus Associated with Parathyroid Hormone Levels
Authors: Antonela Matana, Dubravka Brdar, Vesela Torlak, Marijana Popovic, Ivana Gunjaca, Ozren Polasek, Vesna Boraska Perica, Maja Barbalic, Ante Punda, Caroline Hayward, Tatijana Zemunik
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Parathyroid hormone (PTH) plays a critical role in the regulation of bone mineral metabolism and calcium homeostasis. Higher PTH levels are associated with heart failure, hypertension, coronary artery disease, cardiovascular mortality and poorer bone health. A twin study estimated that 60% of the variation in PTH concentrations is genetically determined. Only one GWAS of PTH concentration has been reported to date. Identified loci explained 4.5% of the variance in circulating PTH, suggesting that additional genetic variants remain undiscovered. Therefore, the aim of this study was to identify novel genetic variants associated with PTH levels in a general population. We have performed a GWAS meta-analysis on 2596 individuals originating from three Croatian cohorts: City of Split and the Islands of Korčula and Vis, within a large-scale project of “10,001 Dalmatians”. A total of 7 411 206 variants, imputed using the 1000 Genomes reference panel, with minor allele frequency ≥ 1% and Rsq ≥ 0.5 were analyzed for the association. GWAS within each data set was performed under an additive model, controlling for age, gender and relatedness. Meta-analysis was conducted using the inverse-variance fixed-effects method. Furthermore, to identify sex-specific effects, we have conducted GWAS meta-analyses analyzing males and females separately. In addition, we have performed biological pathway analysis. Four SNPs, representing one locus, reached genome-wide significance. The most significant SNP was rs11099476 on chromosome 4 (P=1.15x10-8), which explained 1.14 % of the variance in PTH. The SNP is located near the protein-coding gene RASGEF1B. Additionally, we detected suggestive association with SNPs, rs77178854 located on chromosome 2 in the DPP10 gene (P=2.46x10-7) and rs481121 located on chromosome 1 (P=3.58x10-7) near the GRIK1 gene. One of the top hits detected in the main meta-analysis, intron variant rs77178854 located within DPP10 gene, reached genome-wide significance in females (P=2.21x10-9). No single locus was identified in the meta-analysis in males. Fifteen biological pathways were functionally enriched at a P<0.01, including muscle contraction, ion homeostasis and cardiac conduction as the most significant pathways. RASGEF1B is the guanine nucleotide exchange factor, known to be associated with height, bone density, and hip. DPP10 encodes a membrane protein that is a member of the serine proteases family, which binds specific voltage-gated potassium channels and alters their expression and biophysical properties. In conclusion, we identified 2 novel loci associated with PTH levels in a general population, providing us with further insights into the genetics of this complex trait.Keywords: general population, genome-wide association analysis, parathyroid hormone, single nucleotide polymorphisms.
Procedia PDF Downloads 225990 Complex Management of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Authors: Fahad Almehmadi, Abdullah Alrajhi, Bader K. Alaslab, Abdullah A. Al Qurashi, Hattan A. Hassani
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Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is an uncommon, inheritable cardiac disorder characterized by the progressive substitution of cardiac myocytes by fibro-fatty tissues. This pathologic substitution predisposes patients to ventricular arrhythmias and right ventricular failure. The underlying genetic defect predominantly involves genes encoding for desmosome proteins, particularly plakophilin-2 (PKP2). These aberrations lead to impaired cell adhesion, heightening the susceptibility to fibrofatty scarring under conditions of mechanical stress. Primarily, ARVD/C affects the right ventricle, but it can also compromise the left ventricle, potentially leading to biventricular heart failure. Clinical presentations can vary, spanning from asymptomatic individuals to those experiencing palpitations, syncopal episodes, and, in severe instances, sudden cardiac death. The establishment of a diagnostic criterion specifically tailored for ARVD/C significantly aids in its accurate diagnosis. Nevertheless, the task of early diagnosis is complicated by the disease's frequently asymptomatic initial stages, and the overall rarity of ARVD/C cases reported globally. In some cases, as exemplified by the adult female patient in this report, the disease may advance to terminal stages, rendering therapies like Ventricular Tachycardia (VT) ablation ineffective. This case underlines the necessity for increased awareness and understanding of ARVD/C to aid in its early detection and management. Through such efforts, we aim to decrease morbidity and mortality associated with this challenging cardiac disorder.Keywords: ARVD/C, cardiology, interventional cardiology, cardiac electrophysiology
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