Search results for: clinical outcome

Authors: Reema K. AlEssa, Sahar Alshomer, Abdullah Alfaleh, Sultan ALkhenaizan, Mohammed Albalwi

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Ichthyosis is a disorder of abnormal keratinization, characterized by excessive scaling, and consists of more than twenty subtypes varied in severity, mode of inheritance, and the genes involved. There is insufficient data in the literature about the epidemiology and characteristics of ichthyosis locally. Our aim is to identify the histopathological features and genetic profile of ichthyosis. Method: It is an observational retrospective case series study conducted in March 2020, included all patients who were diagnosed with Ichthyosis and confirmed by histological and molecular findings over the last 20 years in King Abdulaziz Medical City (KAMC), Riyadh, Saudi Arabia. Molecular analysis was performed by testing genomic DNA and checking genetic variations using the AmpliSeq panel. All disease-causing variants were checked against HGMD, ClinVar, Genome Aggregation Database (gnomAD), and Exome Aggregation Consortium (ExAC) databases. Result: A total of 60 cases of Ichthyosis were identified with a mean age of 13 ± 9.2. There is an almost equal distribution between female patients 29 (48%) and males 31 (52%). The majority of them were Saudis, 94%. More than half of patients presented with general scaling 33 (55%), followed by dryness and coarse skin 19 (31.6%) and hyperlinearity 5 (8.33%). Family history and history of consanguinity were seen in 26 (43.3% ), 13 (22%), respectively. History of colloidal babies was found in 6 (10%) cases of ichthyosis. The most frequent genes were ALOX12B, ALOXE3, CERS3, CYP4F22, DOLK, FLG2, GJB2, PNPLA1, SLC27A4, SPINK5, STS, SUMF1, TGM1, TGM5, VPS33B. Most frequent variations were detected in CYP4F22 in 16 cases (26.6%) followed by ALOXE3 6 (10%) and STS 6 (10%) then TGM1 5 (8.3) and ALOX12B 5 (8.3). The analysis of molecular genetic identified 23 different genetic variations in the genes of ichthyosis, of which 13 were novel mutations. Homozygous mutations were detected in the majority of ichthyosis cases, 54 (90%), and only 1 case was heterozygous. Few cases, 4 (6.6%) had an unknown type of ichthyosis with a negative genetic result. Conclusion: 13 novel mutations were discovered. Also, about half of ichthyosis patients had a positive history of consanguinity.

Keywords: ichthyosis, genetic profile, molecular characterization, congenital ichthyosis

Procedia PDF Downloads 182

Authors: Vanessa H. S. Zago, Ana Maria H. de Avila, Paula P. Costa, Welington Corozolla, Liriam S. Teixeira, Eliana C. de Faria

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Objectives: The outcome of cardiovascular disease is affected by environment and climate. This study evaluated the possible relationships between climatic and environmental changes and the occurrence of biological rhythms in serum lipids and lipoproteins in a large population sample in the city of Campinas, State of Sao Paulo, Brazil. In addition, it determined the temporal variations of death due to atherosclerotic events in Campinas during the time window examined. Methods: A large 8-year retrospective study was carried out to evaluate the lipid profiles of individuals attended at the University of Campinas (Unicamp). The study population comprised 27.543 individuals of both sexes and of all ages. Normolipidemic and dyslipidemic individuals classified according to Brazilian guidelines on dyslipidemias, participated in the study. For the same period, the temperature, relative humidity and daily brightness records were obtained from the Centro de Pesquisas Meteorologicas e Climaticas Aplicadas a Agricultura/Unicamp and frequencies of death due to atherosclerotic events in Campinas were acquired from the Brazilian official database DATASUS, according to the International Classification of Diseases. Statistical analyses were performed using both Cosinor and ARIMA temporal analysis methods. For cross-correlation analysis between climatic and lipid parameters, cross-correlation functions were used. Results: Preliminary results indicated that rhythmicity was significant for LDL-C and HDL-C in the cases of both normolipidemic and dyslipidemic subjects (n =respectively 11.892 and 15.651 both measures increasing in the winter and decreasing in the summer). On the other hand, for dyslipidemic subjects triglycerides increased in summer and decreased in winter, in contrast to normolipidemic ones, in which triglycerides did not show rhythmicity. The number of deaths due to atherosclerotic events showed significant rhythmicity, with maximum and minimum frequencies in winter and summer, respectively. Cross-correlation analyzes showed that low humidity and temperature, higher thermal amplitude and dark cycles are associated with increased levels of LDL-C and HDL-C during winter. In contrast, TG showed moderate cross-correlations with temperature and minimum humidity in an inverse way: maximum temperature and humidity increased TG during the summer. Conclusions: This study showed a coincident rhythmicity between low temperatures and high concentrations of LDL-C and HDL-C and the number of deaths due to atherosclerotic cardiovascular events in individuals from the city of Campinas. The opposite behavior of cholesterol and TG suggest different physiological mechanisms in their metabolic modulation by climate parameters change. Thus, new analyses are underway to better elucidate these mechanisms, as well as variations in lipid concentrations in relation to climatic variations and their associations with atherosclerotic disease and death outcomes in Campinas.

Keywords: atherosclerosis, climatic variations, lipids and lipoproteins, associations

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Authors: Hurtado Zuñiga Yonel Marcos, Ferreira Joao Tiago

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Introduction: Leiomyoma is a benign smooth muscle tumor. It is predominantly found between 40-49 years with a small prevalence in men. It is commonly found in the uterus, stomach, and in areas with smooth muscle. It presents as nodular, solitary, variable size, slow growing, and asymptomatic. It is classified into solid, vascular, and epithelioid leiomyoma. Vascular leiomyoma is the most common in the oral cavity. Oral leiomyomas are very rare because a smooth muscle in the oral cavity isn’t common. The most frequent areas of this pathologyaretongue, lip, buccal mucosa, and palate. It may be derived from the vascular walls or excretory ducts of the salivary glands. The diagnosis is made by histologically analysis. The treatment of choice is complete excision. Recurrence is rare. Objective: To report the case of a solid leiomyoma on the dorsum of the tongue and review the literature. Case description: A 78-year-old female patient presented a nodular (ovoid) elevation of 8x6mm, brownish color, with irregular limits and firm consistency located in the dorsal part of the tongue with slight symptoms. An excisional biopsy was performed, photographic record, and 3 weeks post-surgical follow-up. Result: The surgical specimen was submitted to an anatomopathological analysis, resulting in a benign nodule with defined limits compatible with solid leiomyoma of the tongue. Discussion: It is a pathology that presents in a solitary, nodular, well-defined, asymptomatic form; in the oral cavity, leiomyomas are found in the tongue, lip, buccal mucosa, and palate; as in our patient, it was nodular and, in the tongue, with a difference only in the symptomatology. The most prevalent age is 40-49 years and with small predominance in men, unlike our female patient with 78 years. Conclusions: Oral leiomyoma is a rare benign lesion that presents as a solitary nodular nodule; for its diagnosis, an anatomopathological analysis should be performed, and the treatment of choice is total excision with little recurrence.

Keywords: tongue, bening tumor, oral leiomyoma, leiomyoma

Procedia PDF Downloads 211

Authors: Uliana N. Tumanova, Viacheslav M. Lyapin, Vladimir G. Bychenko, Alexandr I. Shchegolev, Gennady T. Sukhikh

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It is well known that the gas formed as a result of postmortem decomposition of tissues can be detected already 24-48 hours after death. In addition, the conditions of keeping and storage of the corpse (temperature and humidity of the environment) significantly determine the rate of occurrence and development of posthumous changes. The presence of sepsis is accompanied by faster postmortem decomposition and decay of the organs and tissues of the body. The presence of gas in the vessels and cavities can be revealed fully at postmortem CT. Radiologists must certainly report on the detection of intraorganic or intravascular gas, wich was detected at postmortem CT, to forensic experts or pathologists before the autopsy. This gas can not be detected during autopsy, but it can be very important for establishing a diagnosis. To explore the possibility of postmortem CT for the evaluation of gas accumulations in the newborns' vessels, who died from congenital sepsis. Researched of 44 newborns bodies (25 male and 19 female sex, at the age from 6 hours to 27 days) after 6 - 12 hours of death. The bodies were stored in the refrigerator at a temperature of +4°C in the supine position. Grouped 12 bodies of newborns that died from congenital sepsis. The control group consisted of 32 bodies of newborns that died without signs of sepsis. Postmortem CT examination was performed at the GEMINI TF TOF16 device, before the autopsy. The localizations of gas accumulations in the vessels were determined on the CT tomograms. The sepsis diagnosis was on the basis of clinical and laboratory data and autopsy results. Gases in the vessels were detected in 33.3% of cases in the group with sepsis, and in the control group - in 34.4%. A group with sepsis most often the gas localized in the heart and liver vessels - 50% each, of observations number with the detected gas in the vessels. In the heart cavities, aorta and mesenteric vessels - 25% each. In control most often gas was detected in the liver (63.6%) and abdominal cavity (54.5%) vessels. In 45.5% the gas localized in the cavities, and in 36.4% in the vessels of the heart. In the cerebral vessels and in the aorta gas was detected in 27.3% and 9.1%, respectively. Postmortem CT has high diagnostic capabilities to detect free gas in vessels. Postmortem changes in newborns that died from sepsis do not affect intravascular gas production within 6-12 hours. Radiation methods should be used as a supplement to the autopsy, including as a kind of ‘guide’, with the indication to the forensic medical expert of certain changes identified during CT studies, for better definition of pathological processes during the autopsy. Postmortem CT can be recommend as a first stage of autopsy.

Keywords: congenital sepsis, gas, newborn, postmortem CT

Procedia PDF Downloads 137

Authors: Amany Ragab, Nashwa Khairat Abousamra, Omayma Saleh, Asmaa Higazy

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Insulin resistance syndrome has been shown to be associated with many coagulation and fibrinolytic proteins and these associations suggest that some coagulation and fibrinolytic proteins have a role in atherothrombotic disorders. This study was conducted to determine the levels of some of the haemostatic parameters in subjects having metabolic syndrome and to correlate these values with the anthropometric and metabolic variables associated with this syndrome. The study included 46 obese non diabetic subjects of whom 28 subjects(group1) fulfilled the ATP III criteria of the metabolic syndrome and 18 subjects (group2) did not have metabolic syndrome as well as 14 lean subjects (group 3) of matched age and sex as a control group. Clinical and laboratory evaluation of the study groups stressed on anthropometric measurements (weight, height, body mass index, waist circumference, and sagittal abdominal diameter), blood pressure, and laboratory measurements of fasting plasma glucose, fasting insulin, serum lipids, tissue plasminogen activator (t-PA), antithrombin III activity (ATIII), protein C and von Willebrand factor (vWf) antigen. There was significant increase in the concentrations of t-PA and vWf antigens in subjects having metabolic syndrome (group 1) in comparison to the other groups while there were non-significant changes in the levels of protein C antigen and AT III activity. Both t-PA and vWf showed significant correlation with HOMA-IR as a measure of insulin sensitivity. The t-PA showed also significant correlation with most of the variables of metabolic syndrome including waist circumference, BMI, systolic blood pressure, fasting plasma glucose, fasting insulin, and HDL cholesterol. On the other hand, vWf showed significant correlations with fasting plasma glucose, fasting insulin and sagital abdominal diameter, with non-significant correlations with the other variables. Haemostatic and fibrinolytic parameters should be included in the features and characterization of the insulin resistance syndrome. t-PA and vWf antigens concentrations were increased in subjects with metabolic syndrome and correlated with the HOMA-IR measure of insulin sensitivity. Taking into consideration that both t-PA and vWf are mainly released from vascular endothelium, these findings could be an indicator of endothelial dysfunction in that group of subjects.

Keywords: insulin resistance, obesity, metabolic syndrome, coagulation

Procedia PDF Downloads 128

Authors: Patrizia Poscic, Sanja Candrlic, Danijela Jaksic

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The University of Rijeka, Department of Informatics participated in the Stand4Info project, co-financed by the European Union, with the main idea of an alignment of study programs with occupational and qualifications standards in the field of Informatics. A brief overview of our research methodology, goals and deliverables is shown. Our main research and project objectives were: a) development of occupational standards, qualification standards and study programs based on the Croatian Qualifications Framework (CROQF), b) higher education quality improvement in the field of information and communication sciences, c) increasing the employability of students of information and communication technology (ICT) and science, and d) continuously improving competencies of teachers in accordance with the principles of CROQF. CROQF is a reform instrument in the Republic of Croatia for regulating the system of qualifications at all levels through qualifications standards based on learning outcomes and following the needs of the labor market, individuals and society. The central elements of CROQF are learning outcomes - competences acquired by the individual through the learning process and proved afterward. The place of each acquired qualification is set by the level of the learning outcomes belonging to that qualification. The placement of qualifications at respective levels allows the comparison and linking of different qualifications, as well as linking of Croatian qualifications' levels to the levels of the European Qualifications Framework and the levels of the Qualifications framework of the European Higher Education Area. This research has made 3 proposals of occupational standards for undergraduate study level (System Analyst, Developer, ICT Operations Manager), and 2 for graduate (master) level (System Architect, Business Architect). For each occupational standard employers have provided a list of key tasks and associated competencies necessary to perform them. A set of competencies required for each particular job in the workplace was defined and each set of competencies as described in more details by its individual competencies. Based on sets of competencies from occupational standards, sets of learning outcomes were defined and competencies from the occupational standard were linked with learning outcomes. For each learning outcome, as well as for the set of learning outcomes, it was necessary to specify verification method, material, and human resources. The task of the project was to suggest revision and improvement of the existing study programs. It was necessary to analyze existing programs and determine how they meet and fulfill defined learning outcomes. This way, one could see: a) which learning outcomes from the qualifications standards are covered by existing courses, b) which learning outcomes have yet to be covered, c) are they covered by mandatory or elective courses, and d) are some courses unnecessary or redundant. Overall, the main research results are: a) completed proposals of qualification and occupational standards in the field of ICT, b) revised curricula of undergraduate and master study programs in ICT, c) sustainable partnership and association stakeholders network, d) knowledge network - informing the public and stakeholders (teachers, students, and employers) about the importance of CROQF establishment, and e) teachers educated in innovative methods of teaching.

Keywords: study program, qualification standard, occupational standard, higher education, informatics and computer science

Procedia PDF Downloads 133

Authors: Samuel Sii, David Homewood, Brendan Dittmer, Tony Nzembela, Jonathan O’Brien, Niall Corcoran, Dinesh Agarwal

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Introduction: Innovation is key to the advancement of medicine and improvement in patient care. This is particularly true in surgery, where pioneering techniques have transformed operative management from a historically highly risky peri-morbid and disfiguring to the contemporary low-risk, sterile and minimally invasive treatment modality. There is a delicate balance between enabling innovation and minimizing patient harm. Publication and discussion of novel surgical techniques allow for independent expert review. Recent journals have increasingly stringent requirements for publications and often require larger case volumes for novel techniques to be published. This potentially impairs the initial publication of novel techniques and slows innovation. The historical perspective provides a better understanding of how requirements for the publication of new techniques have evolved over time. This is essential in overcoming challenges in developing novel techniques. Aims and Objectives: We explore how novel techniques in Urology have been published over the past 200 years. Our objective is to describe the trend and publication requirements of novel urological techniques, both historical and present. Methods: We assessed all major urological operations using multipronged historical analysis. An initial literature search was carried out through PubMed and Google Scholar for original literature descriptions, followed by reference tracing. The first publication of each pioneering urological procedure was recorded. Data collected includes the year of publication, description of the procedure, number of cases and outcomes. Results: 65 papers describing pioneering techniques in Urology were identified. These comprised of 2 experimental studies, 17 case reports and 46 case series. These papers described various pioneering urological techniques in urological oncology, reconstructive urology and endourology. We found that, historically, techniques were published with smaller case numbers. Often, the surgical technique itself was a greater focus of the publication than patient outcome data. These techniques were often adopted prior to larger publications. In contrast, the risks and benefits of recent novel techniques are often well-defined prior to adoption. This historical perspective is important as recent journals have requirements for larger case series and data outcomes. This potentially impairs the initial publication of novel techniques and slows innovation. Conclusion: A better understanding of historical publications and their effect on the adoption of urological techniques into common practice could assist the current generation of Urologists in formulating a safe, efficacious process in promoting surgical innovation and the development of novel surgical techniques. We propose the reassessment of requirements for the publication of novel operative techniques by splitting technical perspectives and data-orientated case series. Existing frameworks such as IDEAL and ASERNIP-S should be integrated into current processes when investigating and developing new surgical techniques to ensure efficacious and safe innovation within surgery is encouraged.

Keywords: urology, surgical innovation, novel surgical techniques, publications

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Authors: Elżbieta Turska

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Introduction: One of the most difficult times in a person’s life is adolescence. The experiences in this period may shape the future life of this person to a large extent. This is the reason why many young people experience sadness, dejection, hopelessness, sense of worthlessness, as well as losing interest in various activities and social relationships, all of which are often classified as mood disorders. As many as 15-40% adolescents experience depressed moods and for most of them they resolve and are not carried into adulthood. However, (5-6%) of those affected by mood disorders develop the depressive syndrome and as many as (1-3%) develop full-blown clinical depression. Materials: A large questionnaire was given to 2508 students, aged 13–16 years old, and one of its parts was the Burns checklist, i.e. the standard test for identifying depressed mood. The questionnaire asked about many aspects of the student’s life, it included a total of 53 questions, most of which had subquestions. It is important to note that the data suffered from many problems, the most important of which were missing data and collinearity. Aim: In order to identify the correlates of mood disorders we built predictive models which were then trained and validated. Our aim was not to be able to predict which students suffer from mood disorders but rather to explore the factors influencing mood disorders. Methods: The problems with data described above practically excluded using all classical statistical methods. For this reason, we attempted to use the following Artificial Intelligence (AI) methods: classification trees with surrogate variables, random forests and xgboost. All analyses were carried out with the use of the mlr package for the R programming language. Resuts: The predictive model built by classification trees algorithm outperformed the other algorithms by a large margin. As a result, we were able to rank the variables (questions and subquestions from the questionnaire) from the most to least influential as far as protection against mood disorder is concerned. Thirteen out of twenty most important variables reflect the relationships with parents. This seems to be a really significant result both from the cognitive point of view and also from the practical point of view, i.e. as far as interventions to correct mood disorders are concerned.

Keywords: mood disorders, adolescents, family, artificial intelligence

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Authors: Christopher S. Perez, Kendal C. Boyd

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global suicide rates have decreased in recent decades, rates in the United States have increased by 35.2 percent since 1999.American Indians and Alaska Natives (AI/AN) have the highest rates of suicide in the U.S., with approximately 22 suicides per 100,000 people as of 2019. AI/AN have experienced significant historical trauma resulting in disproportionate rates of substance abuse and mental disorders. This literature review aimed to identify the demographic and clinical risk and protective factors for American Indians and Alaska Natives and provide an overview of suicidality in this population. The literature reflected varying definitions of suicidality depending on region, with some AI/AN tribesconceptualizing suicide through a spiritual framework, while others defined suicide in the biomedical sense. Furthermore, AI/AN adults and adolescents experienced higher rates of suicidal ideation when compared to other racial groups. Religious preference, sexual orientation, prior suicidal behavior, psychiatric admission, history of abuse, substance abuse, family history of mental illness, family history of substance abuse, family history of suicidal behaviors, domestic violence, and trauma were discussed as factors related to suicidality. Recommendations included increasing access to and utilization of mental health and medical services, culturally adapting suicide prevention programs to AI/AN communities, increasing support for LGBTQ+ AI/AN, providing opportunities that reinforce ethnic identity, and post-hospitalization follow-up care. The following databases were utilized to obtain peer-reviewed articles for this literature review: Complementary Index, Academic Search Premier, Science Direct, PsycInfo, Social Sciences Citation Index, PsycArticles, PubMed, EbscoHost, and PsycBooks. Articles that examined Native populations outside of the United States did not cite a primary source and/or were published before 1990 were excluded.

Keywords: alaska native, american indian, protective factors, risk factors, suicidality, suicide

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Authors: Jaeyoung Kim, Heeju Lee, Huijin Jung, Heesoo Pyo, Seungki Kim, Joonseok Lee

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Avian influenza viruses (AIV) are the primary cause of highly contagious respiratory diseases caused by type A influenza viruses of the Orthomyxoviridae family. AIV are categorized on the basis of types of surface glycoproteins such as hemagglutinin and neuraminidase. Certain H5 and H7 subtypes of AIV have evolved to the high pathogenic avian influenza (HPAI) virus, which has caused considerable economic loss to the poultry industry and led to severe public health crisis. Several commercial kits have been developed for on-site detection of AIV. However, the sensitivity of these methods is too low to detect low virus concentrations in clinical samples and opaque stool samples. Here, we introduced a background-free near-infrared (NIR)-to-NIR upconversion nanoparticle-based lateral flow immunoassay (NNLFA) platform to yield a sensor that detects AIV within 20 minutes. Ca²⁺ ion in the shell was used to enhance the NIR-to-NIR upconversion photoluminescence (PL) emission as a heterogeneous dopant without inducing significant changes in the morphology and size of the UCNPs. In a mixture of opaque stool samples and gold nanoparticles (GNPs), which are components of commercial AIV LFA, the background signal of the stool samples mask the absorption peak of GNPs. However, UCNPs dispersed in the stool samples still show strong emission centered at 800 nm when excited at 980 nm, which enables the NNLFA platform to detect 10-times lower viral load than a commercial GNP-based AIV LFA. The detection limit of NNLFA for low pathogenic avian influenza (LPAI) H5N2 and HPAI H5N6 viruses was 10² EID₅₀/mL and 10³.⁵ EID₅₀/mL, respectively. Moreover, when opaque brown-colored samples were used as the target analytes, strong NIR emission signal from the test line in NNLFA confirmed the presence of AIV, whereas commercial AIV LFA detected AIV with difficulty. Therefore, we propose that this rapid and background-free NNLFA platform has the potential of detecting AIV in the field, which could effectively prevent the spread of these viruses at an early stage.

Keywords: avian influenza viruses, lateral flow immunoassay on-site detection, upconversion nanoparticles

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Authors: Young Ah Kim, Hyunsoo Kim, Eun-Jeong Yoon, Young Hee Seo, Kyungwon Lee

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Extended-spectrum β-lactamase (ESBL)-producing Escherichia coli from food animals are considered as a reservoir for transmission of ESBL genes to human. The aim of this study is to assess the prevalence and molecular epidemiology of ESBL-producing E. coli colonization in pigs, farm workers, and farm environments to elucidate the transmission of multidrug-resistant clones from animal to human. Nineteen pig farms were enrolled across the country in Korea from August to December 2017. ESBL-producing E. coli isolates were detected in 190 pigs, 38 farm workers, and 112 sites of farm environments using ChromID ESBL (bioMerieux, Marcy l'Etoile, France), directly (stool or perirectal swab) or after enrichment (sewage). Antimicrobial susceptibility tests were done with disk diffusion methods and blaTEM, blaSHV, and blaCTX-M were detected with PCR and sequencing. The genomes of the four CTX-M-55-producing E. coli isolates from various sources in one farm were entirely sequenced to assess the relatedness of the strains. Whole genome sequencing (WGS) was performed with PacBio RS II system (Pacific Biosciences, Menlo Park, CA, USA). ESBL genotypes were 85 CTX-M-1 group (one CTX-M-3, 23 CTX-M-15, one CTX-M-28, 59 CTX-M-55, one CTX-M-69) and 60 CTX-M-9 group (41 CTX-M-14, one CTX-M-17, one CTX-M-27, 13 CTX-M-65, 4 CTX-M-102) in total 145 isolates. The rectal colonization rates were 53.2% (101/190) in pigs and 39.5% (15/38) in farm workers. In WGS, sequence types (STs) were determined as ST69 (E. coli PJFH115 isolate from a human carrier), ST457 (two E. coli isolates PJFE101 recovered from a fence and PJFA1104 from a pig) and ST5899 (E. coli PJFA173 isolate from the other pig). The four plasmids encoding CTX-M-55 (88,456 to 149, 674 base pair), whether it belonged to IncFIB or IncFIC-IncFIB type, shared IncF backbone furnishing the conjugal elements, suggesting of genes originated from same ancestor. In conclusion, the prevalence of ESBL-producing E. coli in swine farms was surprisingly high, and many of them shared common ESBL genotypes of clinical isolates such as CTX-M-14, 15, and 55 in Korea. It could spread by horizontal transfer between isolates from different reservoirs (human-animal-environment).

Keywords: Escherichia coli, extended-spectrum β-lactamase, prevalence, whole genome sequencing

Procedia PDF Downloads 197

Authors: Rofida Gamal, Mostafa Mohammed, Mariam Adel, Marwa Gamal, Marwa kamal, Ayat Saber, Maha Mamdouh, Amira Emad, Mai Ramadan

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Lynch Syndrome is an inherited genetic condition associated with an increased risk of colorectal and other cancers. Detecting Lynch Syndrome in individuals is crucial for early intervention and preventive measures. This study proposes a computational pipeline for Lynch Syndrome detection by integrating alignment, variant calling, and annotation. The pipeline leverages popular tools such as FastQC, Trimmomatic, BWA, bcftools, and ANNOVAR to process the input FASTQ file, perform quality trimming, align reads to the reference genome, call variants, and annotate them. It is believed that the computational pipeline was applied to a dataset of Lynch Syndrome cases, and its performance was evaluated. It is believed that the quality check step ensured the integrity of the sequencing data, while the trimming process is thought to have removed low-quality bases and adaptors. In the alignment step, it is believed that the reads were accurately mapped to the reference genome, and the subsequent variant calling step is believed to have identified potential genetic variants. The annotation step is believed to have provided functional insights into the detected variants, including their effects on known Lynch Syndrome-associated genes. The results obtained from the pipeline revealed Lynch Syndrome-related positions in the genome, providing valuable information for further investigation and clinical decision-making. The pipeline's effectiveness was demonstrated through its ability to streamline the analysis workflow and identify potential genetic markers associated with Lynch Syndrome. It is believed that the computational pipeline presents a comprehensive and efficient approach to Lynch Syndrome detection, contributing to early diagnosis and intervention. The modularity and flexibility of the pipeline are believed to enable customization and adaptation to various datasets and research settings. Further optimization and validation are believed to be necessary to enhance performance and applicability across diverse populations.

Keywords: Lynch Syndrome, computational pipeline, alignment, variant calling, annotation, genetic markers

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Authors: Misty Attwood, Helgi Schioth

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Transmembrane proteins are important components in many essential cell processes such as signal transduction, cell-cell signalling, transport of solutes, structural adhesion activities, and protein trafficking. Due to their involvement in diverse critical activities, transmembrane proteins are implicated in different disease pathways and hence are the focus of intense interest in understanding functional activities, their pathogenesis in disease, and their potential as pharmaceutical targets. Further, as the structure and function of proteins are correlated, investigating a group of proteins with the same tertiary structure, i.e., the same number of transmembrane regions, may give understanding about their functional roles and potential as therapeutic targets. In this in silico bioinformatics analysis, we identify and comprehensively characterize the previously unstudied group of proteins with five transmembrane-spanning regions (5TM). We classify nearly 60 5TM proteins in which 31 are members of ten families that contain two or more family members and all members are predicted to contain the 5TM architecture. Furthermore, nine singlet proteins that contain the 5TM architecture without paralogues detected in humans were also identifying, indicating the evolution of single unique proteins with the 5TM structure. Interestingly, more than half of these proteins function in localization activities through movement or tethering of cell components and more than one-third are involved in transport activities, particularly in the mitochondria. Surprisingly, no receptor activity was identified within this family in sharp contrast with other TM families. Three major 5TM families were identified and include the Tweety family, which are pore-forming subunits of the swelling-dependent volume regulated anion channel in astrocytes; the sidoreflexin family that acts as mitochondrial amino acid transporters; and the Yip1 domain family engaged in vesicle budding and intra-Golgi transport. About 30% of the proteins have enhanced expression in the brain, liver, or testis. Importantly, 60% of these proteins are identified as cancer prognostic markers, where they are associated with clinical outcomes of various tumour types, indicating further investigation into the function and expression of these proteins is important. This study provides the first comprehensive analysis of proteins with 5TM regions and provides details of the unique characteristics and application in pharmaceutical development.

Keywords: 5TM, cancer prognostic marker, drug targets, transmembrane protein

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Authors: Nuno Biga

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Artificial Intelligence (AI) allows machines to interpret information and learn from context analysis, giving them the ability to make predictions adjusted to each specific situation. In addition to learning by performing deterministic and probabilistic calculations, the 'artificial brain' also learns through information and data provided by those who train it, namely its users. The "Assisted-BIGAMES" version of the Accident & Emergency (A&E) simulator introduces the concept of a "Virtual Assistant" (VA) that provides users with useful suggestions, namely to pursue the following operations: a) to relocate workstations in order to shorten travelled distances and minimize the stress of those involved; b) to identify in real time the bottleneck(s) in the operations system so that it is possible to quickly act upon them; c) to identify resources that should be polyvalent so that the system can be more efficient; d) to identify in which specific processes it may be advantageous to establish partnership with other teams; and e) to assess possible solutions based on the suggested KPIs allowing action monitoring to guide the (re)definition of future strategies. This paper is built on the BIGAMES© simulator and presents the conceptual AI model developed in a pilot project. Each Virtual Assisted BIGAME is a management simulator developed by the author that guides operational and strategic decision making, providing users with useful information in the form of management recommendations that make it possible to predict the actual outcome of different alternative management strategic actions. The pilot project developed incorporates results from 12 editions of the BIGAME A&E that took place between 2017 and 2022 at AESE Business School, based on the compilation of data that allows establishing causal relationships between decisions taken and results obtained. The systemic analysis and interpretation of this information is materialised in the Assisted-BIGAMES through a computer application called "BIGAMES Virtual Assistant" that players can use during the Game. Each participant in the Virtual Assisted-BIGAMES permanently asks himself about the decisions he should make during the game in order to win the competition. To this end, the role of the VA of each team consists in guiding the players to be more effective in their decision making through presenting recommendations based on AI methods. It is important to note that the VA's suggestions for action can be accepted or rejected by the managers of each team, and as the participants gain a better understanding of the game, they will more easily dispense with the VA's recommendations and rely more on their own experience, capability, and knowledge to support their own decisions. Preliminary results show that the introduction of the VA provides a faster learning of the decision-making process. The facilitator (Serious Game Controller) is responsible for supporting the players with further analysis and the recommended action may be (or not) aligned with the previous recommendations of the VA. All the information should be jointly analysed and assessed by each player, who are expected to add “Emotional Intelligence”, a component absent from the machine learning process.

Keywords: artificial intelligence (AI), gamification, key performance indicators (KPI), machine learning, management simulators, serious games, virtual assistant

Procedia PDF Downloads 92

Authors: Y. Zheng, M. Busi, A. F. Pedersen, M. A. Beltran, C. Gundlach

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X-ray phase contrast imaging has shown to yield a better contrast compared to conventional attenuation X-ray imaging, especially for soft tissues in the medical imaging energy range. This can potentially lead to better diagnosis for patients. However, phase contrast imaging has mainly been performed using highly brilliant Synchrotron radiation, as it requires high coherence X-rays. Many research teams have demonstrated that it is also feasible using a laboratory source, bringing it one step closer to clinical use. Nevertheless, the requirement of fine gratings and high precision stepping motors when using a laboratory source prevents it from being widely used. Recently, a random phase object has been proposed as an analyzer. This method requires a much less robust experimental setup. However, previous studies were done using a particular X-ray source (liquid-metal jet micro-focus source) or high precision motors for stepping. We have been working on a much simpler setup with just small modification of a commercial bench-top micro-CT (computed tomography) scanner, by introducing a piece of sandpaper as the phase analyzer in front of the X-ray source. However, it needs a suitable algorithm for speckle tracking and 3D reconstructions. The precision and sensitivity of speckle tracking algorithm determine the resolution of the system, while the 3D reconstruction algorithm will affect the minimum number of projections required, thus limiting the temporal resolution. As phase contrast imaging methods usually require much longer exposure time than traditional absorption based X-ray imaging technologies, a dynamic phase contrast micro-CT with a high temporal resolution is particularly challenging. Different reconstruction methods, including neural network based techniques, will be evaluated in this project to increase the temporal resolution of the phase contrast micro-CT. A Monte Carlo ray tracing simulation (McXtrace) was used to generate a large dataset to train the neural network, in order to address the issue that neural networks require large amount of training data to get high-quality reconstructions.

Keywords: micro-ct, neural networks, reconstruction, speckle-based x-ray phase contrast

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Authors: Jade Fersterer, Tristan Snell, Mark Rickinson

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This paper is designed to provide a review of the literature concerning the impact of natural environments on student learning and wellbeing in Australia. Specific areas of interest include how child-led and teacher-led pedagogies differ in outdoor learning settings, and the impact of each approach on children’s well-being, behavior, relationships with others as well as educational outcomes. The review will include links to possibilities for future research, including a Ph.D. currently being undertaken in Australia, which aims to fulfill a considerable gap in psychological, educational and outdoor learning research, regarding how natural environments are being used by teachers to improve learning and wellbeing among primary school students. The proposed study aims to understand if children’s experience of learning, 1. in a natural environment, and 2. in a child-led way, can support and strengthen their skills across several areas of development, including those required for positive educational outcomes. Data will be collected from a sample of primary school students and teachers via both quantitative and qualitative methods, including a pre- and post-questionnaire, direct observation, and semi-structured interviews. The study will have valuable implications for the provision of quality education as well as the promotion of good health and wellbeing. The implications of the research will be useful not only for teachers and parents but also for Psychologists working with children and young people in both a school and clinical setting. Understanding the impacts and implications of child-led learning and exposure to natural environments provides the opportunity to build on the current school curriculum. The inclusion of child-led experiences in nature may provide a simple way to build enthusiasm for school and learning, cultivating skills for life and relationships as well as meeting current curriculum requirements and building capacity for ongoing academic pursuits. In addition, understanding the impact of learning in a natural environment on wellbeing will assist in the development and dissemination of an educational model that could help mitigate the negative health outcomes associated with reduced physical activity and decreasing contact with nature among children.

Keywords: child-led learning, educational outcomes, natural environments, wellbeing

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Authors: Esabelle Lo Yan Yam, Pheak Chhoun, Sovannary Tuot, Emily Lancsar, Siyan Yi

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Persons living with HIV (PLHIV) need lifelong antiretroviral treatment (ART) to keep their viral load suppressed to an undetectable level, maintain a healthy immune system, and reduce the risk of transmitting HIV to others. However, many factors affect PLHIV's adherence to ART, including access to antiretrovirals (ARV), stigma, lack of social support, and the burden of seeking lifelong care. Community-based care has been shown to be instrumental in the experience of PLHIV in many countries, including Cambodia. In this study based in Cambodia, a community-based ART delivery (CAD) intervention involving community action workers (CAWs) who are PLHIVs was introduced. These workers collect pre-packaged ARVs from the ART clinics and dispense them to PLHIVs in the communities. The quasi-experimental study involved approximately 2000 stable PLHIV in the intervention arm and another 2000 PLHIV in the control arm (receiving usual care). A cost-effectiveness analysis is currently conducted to complement the clinical effectiveness of the CAD intervention on the care continuum and treatment outcomes for stable PLHIV, as well as the operational effectiveness in increasing the efficiency of the ART clinics and the health system. The analysis will consider health system and societal perspectives based on primary outcomes, including retention in care, viral load suppression, and adherence to ART. Additionally, a consultation with the National Centre for HIV/AIDS, Dermatology, and STD under the Cambodia Ministry of Health will be done to discuss the conduct of a budget impact analysis that can quantify the financial impact on the government's budget when adopting the CAD intervention at the provincial and national levels. The budget impact analysis will take into consideration various scaling-up scenarios for the interventions in the country. The research will assess the cost-effectiveness of the CAD intervention to support national stakeholders in Cambodia to make an informed decision on the adoption and scaling up of the intervention in Cambodia. The results are currently being analyzed and will be available at the time of the conference.

Keywords: Cambodia, community intervention, economic evaluation, global health, HIV/AIDs, implementation research

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Authors: Atitallah Sofien, Bouyahia Olfa, Krifi farah, Missaoui Nada, Ben Rabeh Rania, Yahyaoui Salem, Mazigh Sonia, Boukthir Samir

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Introduction: Subcutaneous fat necrosis of the newborn (SCFN) is a rare acute hypodermatitis characterized by skin lesions in the form of infiltrated, hard plaques and subcutaneous nodules, with a purplish-red color, occurring between the first and sixth week of life. SCFN is generally a benign condition that spontaneously regresses without sequelae, but it can be complicated by severe hypercalcemia. Methodology: This is a retrospective case report of neonatal subcutaneous fat necrosis complicated with severe hypercalcemia and nephrocalcinosis. Results: This is a case of a female newborn with a family history of a hypothyroid mother on Levothyrox, born to non-consanguineous parents and from a well-monitored pregnancy. The newborn was delivered by cesarean section at 39 weeks gestation due to severe preeclampsia. She was admitted to the Neonatal Intensive Care Unit at 1 hour of life for the management of grade 1 perinatal asphyxia and immediate neonatal respiratory distress related to transient respiratory distress. Hospitalization was complicated by a healthcare-associated infection, requiring intravenous antibiotics for ten days, with a good clinical and biological response. On the 20th day of life, she developed skin lesions in the form of indurated purplish-red nodules on the back and on both arms. A SCFN was suspected. A calcium level test was conducted, which returned a result of 3 mmol/L. The rest of the phosphocalcic assessment was normal, with early signs of nephrocalcinosis observed on renal ultrasound. The diagnosis of SCFN complicated by nephrocalcinosis associated with severe hypercalcemia was made, and the condition improved with intravenous hydration and corticosteroid therapy. Conclusion: SCFN is a rare and generally benign hypodermatitis in newborns with an etiology that is still poorly understood. Despite its benign nature, SCFN can be complicated by hypercalcemia, which can sometimes be life-threatening. Therefore, it is important to conduct a thorough skin examination of newborns, especially those with risk factors, to detect and correct any potential hypercalcemia.

Keywords: subcutaneous fat necrosis, newborn, hypercalcemia, nephrocalcinosis

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Authors: K. Frahtia, I. Mihoubi, S. Picot

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Leishmaniasis is a group of parasitic disease with a varied clinical expression caused by flagellate protozoa of the Leishmania genus. These diseases are transmitted to humans and animals by the sting of a vector insect, the female sandfly. Among the groups of dipteral disease vectors, Phlebotominae occupy a prime position and play a significant role in human pathology, such as leishmaniasis that affects nearly 350 million people worldwide. The vector control operation launched by health services throughout the country proves to be effective since despite the prevalence of the disease remains high especially in rural areas, leishmaniasis appears to be declining in Algeria. In this context, this study mainly concerns molecular detection of Leishmania from the vector. Furthermore, a molecular diagnosis has also been made on skin samples taken from patients in the region of Constantine, located in the North-East of Algeria. Concerning the vector, 5858 sandflies were captured, including 4360 males and 1498 females. Male specimens were identified based on their morphological. The morphological identification highlighted the presence of the Phlebotomus genus with a prevalence of 93% against 7% represented by the Sergentomyia genus. About the identified species, P. perniciosus is the most abundant with 59.4% of the male identified population followed by P. longicuspis with 24.7% of the workforce. P. perfiliewi is poorly represented by 6.7% of specimens followed by P. papatasi with 2.2% and 1.5% S. dreyfussi. Concerning skin samples, 45/79 (56.96%) collected samples were found positive by real-time PCR. This rate appears to be in sharp decline compared to previous years (alert peak of 30,227 cases in 2005). Concerning the detection of Leishmania from sandflies by RT-PCR, the results show that 3/60 PCR performed genus are positive with melting temperatures corresponding to that of the reference strain (84.1 +/- 0.4 ° C for L. infantum). This proves that the vectors were parasitized. On the other side, identification by RT-PCR species did not give any results. This could be explained by the presence of an insufficient amount of leishmanian DNA in the vector, and therefore support the hypothesis of the regression of leishmaniasis in Constantine.

Keywords: Algeria, molecular diagnostic, phlebotomus, real time PCR

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Authors: Benjamin Glasner, Carlos Henriquez, Fernando Alfaro, Nicole Trefault, Santiago Andrade, Rodrigo De La Iglesia

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A central question in ecology refers to the relative importance that local-scale variables have over community composition, when compared with regional-scale variables. In coastal environments, strong seasonal abiotic influence dominates these systems, weakening the impact of other parameters like micronutrients. After the industrial revolution, micronutrients like trace metals have increased in ocean as pollutants, with strong effects upon biotic entities and biological processes in coastal regions. Coastal picoplankton communities had been characterized as a cyanobacterial dominated fraction, but in recent years the eukaryotic component of this size fraction has gained relevance due to their high influence in carbon cycle, although, diversity patterns and responses to disturbances are poorly understood. South Pacific upwelling coastal environments represent an excellent model to study seasonal changes due to a strong influence in the availability of macro- and micronutrients between seasons. In addition, some well constrained coastal bays of this region have been subjected to strong disturbances due to trace metal inputs. In this study, we aim to compare the influence of seasonality and trace metals concentrations, on the community structure of planktonic picoeukaryotes. To describe seasonal patterns in the study area, satellite data in a 6 years time series and in-situ measurements with a traditional oceanographic approach such as CTDO equipment were performed. In addition, trace metal concentrations were analyzed trough ICP-MS analysis, for the same region. For biological data collection, field campaigns were performed in 2011-2012 and the picoplankton community was described by flow cytometry and taxonomical characterization with next-generation sequencing of ribosomal genes. The relation between the abiotic and biotic components was finally determined by multivariate statistical analysis. Our data show strong seasonal fluctuations in abiotic parameters such as photosynthetic active radiation and superficial sea temperature, with a clear differentiation of seasons. However, trace metal analysis allows identifying strong differentiation within the study area, dividing it into two zones based on trace metals concentration. Biological data indicate that there are no major changes in diversity but a significant fluctuation in evenness and community structure. These changes are related mainly with regional parameters, like temperature, but by analyzing the metal influence in picoplankton community structure, we identify a differential response of some plankton taxa to metal pollution. We propose that some picoeukaryotic plankton groups respond differentially to metal inputs, by changing their nutritional status and/or requirements under disturbances as a derived outcome of toxic effects and tolerance.

Keywords: Picoeukaryotes, plankton communities, trace metals, seasonal patterns

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Authors: Kristian Bugeja, Upeshala A. Jayawardena, Clarissa Fenech, Mark Zammit Vincenti

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Introduction: Biliary colic, acute cholecystitis, and gallstone pancreatitis are some of the most common surgical presentations at Gozo General Hospital (GGH). National Institute for Health and Care Excellence (NICE) guidelines advise that suitable patients with acute biliary problems should be offered a laparoscopic cholecystectomy within one week of diagnosis. There has traditionally been difficulty in achieving this mainly due to the reluctance of some surgeons to operate in the acute setting, limited, timely access to MRCP and ERCP, and organizational issues. Methodology: A retrospective study was performed involving all biliary pathology-related admissions to GGH during the two-year period of 2019 and 2020. Patients’ files and electronic case summary (ECS) were used for data collection, which included demographic data, primary diagnosis, co-morbidities, management, waiting time to surgery, length of stay, readmissions, and reason for readmissions. NICE clinical guidance 188 – Gallstone disease were used as the standard. Results: 51 patients were included in the study. The mean age was 58 years, and 35 (68.6%) were female. The main diagnoses on admission were biliary colic in 31 (60.8%), acute cholecystitis in 10 (19.6%). Others included gallstone pancreatitis in 3 (5.89%), chronic cholecystitis in 2 (3.92%), gall bladder malignancy in 4 (7.84%), and ascending cholangitis in 1 (1.97%). Management included laparoscopic cholecystectomy in 34 (66.7%); conservative in 8 (15.7%) and ERCP in 6 (11.7%). The mean waiting time for laparoscopic cholecystectomy for patients with acute cholecystitis was 74 days – range being between 3 and 146 days since the date of diagnosis. Only one patient who was diagnosed with acute cholecystitis and managed with laparoscopic cholecystectomy was done so within the 7-day time frame. Hospital re-admissions were reported in 5 patients (9.8%) due to vomiting (1), ascending cholangitis (1), and gallstone pancreatitis (3). Discussion: Guidelines were not met for patients presenting to Gozo General Hospital with acute biliary pathology. This resulted in 5 patients being re-admitted to hospital while waiting for definitive surgery. The local issues resulting in the delay to surgery need to be identified and steps are taken to facilitate the provision of urgent cholecystectomy for suitable patients.

Keywords: biliary colic, acute cholecystits, laparoscopic cholecystectomy, conservative management

Procedia PDF Downloads 149

Authors: Argyris B. Karapetsas, Rozi M. Laskaraki, Aikaterini A. Karapetsa, Maria Bampou, Valentini N. Vamvaka

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The main aim of the current protocol is the contribution of neuropsychology in both assessment and rehabilitation settings for children with dyslexia. Objectives: The purpose of this study was to evaluate the significant role of neuropsychological assessment including both Psychometric and electrophysiological tests as well as to investigate the effectiveness of an Auditory Training program, designed via Music designed for children with Developmental Dyslexia (DD). Materials: In our study, participated 45 third-, and fourth-grade students with DD and a matched control group (n=45). Method: At the first phase of the protocol, children underwent a clinical assessment, including both electrophysiological, i.e. Event Related Potentials (ERPs) esp. P300 waveform, and psychometric tests, being conducted in Laboratory of Neuropsychology, at University of Thessaly, in Volos, Greece. Assessment’s results confirmed statistically significant lower performance for children with DD for all tests, compared to the typical readers of the control group. After evaluation, a subgroup of children with DD participated in a Rehabilitation Program including digitized musical auditory training activities. Results: The electrophysiological recordings after the intervention revealed shorter, almost similar, P300 latency values for children with DD to those of the control group, indicating the beneficial effects of the Intervention, thus enabling children develop reading skills and become successful readers. Discussion: Similar research data confirm the crucial role of neuropsychology in both diagnosis and treatment of common disorders, observed in children. Indeed, as for DD, there is growing evidence that brain activity dysfunction does occur, as it is confirmed by neuropsychological assessment and also musical auditory training may have remedial effects. Conclusions: The outcomes of the current study suggest that due to the neurobiological origin of DD, neuropsychology may give the means in both neuropsychological assessment and rehabilitation, enabling professionals to cope with cerebral dysfunction and recovery more efficiently.

Keywords: diagnosis, dyslexia, ERPs, Music, neuropsychology, rehabilitation

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Authors: Kaori Narita, Juan de Dios Tena Horrillo, Claudio Detotto

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Decisions on replacement of leaders are of significance and high prevalence in any organization, and concerns many of its stakeholders, whether it is a leader in a political party or a CEO of a firm, as indicated by high media coverage of such events. This merits an investigation into the consequences and implications of a leadership change on the performances and behavior of organizations and their workers. Sport economics provides a fruitful field to explore these issues due to the high frequencies of managerial changes in professional sports clubs and the transparency and regularity of observations of team performance and players’ abilities. Much of the existing research on managerial change focuses on how this affects the performance of an organization. However, there is scarcely attention paid to the consequences of such events on the behavior of individuals within the organization. Changes in behavior and attitudes of a group of workers due to a managerial change could be of great interest in management science, psychology, and operational research. On the other hand, these changes cannot be observed in the final outcome of the organization, as this is affected by many other unobserved shocks, for example, the stress level of workers with the need to deal with a difficult situation. To fill this gap, this study shows the first attempt to evaluate the impact of managerial change on players’ behaviors such as attack intensity, aggressiveness, and efforts. The data used in this study is from the top tier Italian football league (“Serie A”), where an average of 13 within season replacements of head coaches were observed over the period of seasons from 2000/2001 to 2017/18. The preliminary estimation employs Pooled Ordinary Least Square (POLS) and club-season Fixed Effect (FE) in order to assess the marginal effect of having a new manager on the number of shots, corners and red/yellow cards after controlling for a home-field advantage, ex ante abilities and current positions in the league of a team and their opponent. The results from this preliminary estimation suggest that the teams do not show a significant difference in their behaviors before and after the managerial change. To build on these preliminary results, other methods, including propensity score matching and non-linear model estimates, will be used. Moreover, the study will further investigate these issues by considering other measurements of attack intensity, aggressiveness, and efforts, such as possessions, a number of fouls and the athletic performance of players, respectively. Finally, the study is going to investigate whether these results vary over the characteristics of a new head coach, for example, their age and experience as a manager and a player. Thus far, this study suggests that certain behaviours of individuals in an organisation are not immediately affected by a change in leadership. To confirm this preliminary finding and lead to a more solid conclusion, further investigation will be conducted in the aforementioned manner, and the results will be elaborated in the conference.

Keywords: behaviour, effort, manager characteristics, managerial change, sport economics

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Authors: L. Nathaniel-Wurie

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The Sellick manoeuvre a.k.a the application of cricoid force (CF), was first described by Brian Sellick in 1961. CF is the application of digital pressure against the cricoid cartilage with the intention of posterior force causing oesophageal compression against the vertebrae. This is designed to prevent passive regurgitation of gastric contents, which is a major cause of morbidity and mortality during emergency airway management inside and outside of the hospital. To the authors knowledge, there is no universally standardised training modality and, therefore, no reliable way to examine if there are appropriate outcomes. If force is not measured during training, how can one surmise that appropriate, accurate, or precise amounts of force are being used routinely. Poor homogeneity in teaching and untested outcomes will correlate with reduced efficacy and increased adverse effects. For this study, the accuracy of force delivery in trained professionals was tested, and outcomes contrasted against a novice control and a novice study group. In this study, 20 operating department practitioners were tested (with a mean experience of 5.3years of performing CF). Subsequent contrast with 40 novice students who were randomised into one of two arms. ‘Arm A’ were explained the procedure, then shown the procedure then asked to perform CF with the corresponding force measurement being taken three times. Arm B had the same process as arm A then before being tested, they had 10, and 30 Newtons applied to their hands to increase intuitive understanding of what the required force equated to, then were asked to apply the equivalent amount of force against a visible force metre and asked to hold that force for 20 seconds which allowed direct visualisation and correction of any over or under estimation. Following this, Arm B were then asked to perform the manoeuvre, and the force generated measured three times. This study shows that there is a wide distribution of force produced by trained professionals and novices performing the procedure for the first time. Our methodology for teaching the manoeuvre shows an improved accuracy, precision, and homogeneity within the group when compared to novices and even outperforms trained practitioners. In conclusion, if this methodology is adopted, it may correlate with higher clinical outcomes, less adverse events, and more successful airway management in critical medical scenarios.

Keywords: airway, cricoid, medical education, sellick

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Authors: Lou J. Pino, Mark Campbell, Matthew J. Kennedy, Ashleigh C. Kennedy

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A concussion is complex and nuanced, with cognitive rest being a key component of recovery. Cognitive overexertion during rehabilitation from a concussion is associated with delayed recovery. However, daily living imposes cognitive demands that may be unavoidable and difficult to quantify. Therefore, a portable tool capable of alerting patients before cognitive overexertion occurs could allow patients to maintain their quality of life while preventing symptoms and recovery setbacks. EEG allows for a sensitive measure of cognitive exertion. Clinical 32-lead EEG headsets are not practical for day-to-day concussion rehabilitation management. However, there are now commercially available and affordable portable EEG headsets. Thus, these headsets can potentially be used to continuously monitor cognitive exertion during mental tasks to alert the wearer of overexertion, with the aim of preventing the occurrence of symptoms to speed recovery times. The objective of this study was to test an algorithm for predicting cognitive exertion from EEG data collected from a portable headset. EEG data were acquired from 10 participants (5 males, 5 females). Each participant wore a portable 4 channel EEG headband while completing 10 tasks: rest (eyes closed), rest (eyes open), three levels of the increasing difficulty of logic puzzles, three levels of increasing difficulty in multiplication questions, rest (eyes open), and rest (eyes closed). After each task, the participant was asked to report their perceived level of cognitive exertion using the NASA Task Load Index (TLX). Each participant then completed a second session on a different day. A customized machine learning model was created using data from the first session. The performance of each model was then tested using data from the second session. The mean correlation coefficient between TLX scores and predicted cognitive exertion was 0.75 ± 0.16. The results support the efficacy of the algorithm for predicting cognitive exertion. This demonstrates that the algorithms developed in this study used with portable EEG devices have the potential to aid in the concussion recovery process by monitoring and warning patients of cognitive overexertion. Preventing cognitive overexertion during recovery may reduce the number of symptoms a patient experiences and may help speed the recovery process.

Keywords: cognitive activity, EEG, machine learning, personalized recovery

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Authors: Sakinah Idris, Gabrine Jagersma, Bjorn Jaime Van Pelt, Kirstin Greaves-Lord

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Background: The PEERS (Program for the Education and Enrichment of Relational Skills) intervention can be considered a well-established, evidence-based intervention in the USA. However, testing the efficacy of cultural adaptations of PEERS is still ongoing. More and more, the involvement of all stakeholders in the development and evaluation of interventions is acknowledged as crucial for the longer term implementation of interventions across settings. Therefore, in the current project, teens with ASD (Autism Spectrum Disorder), their neurotypical peers, parents, teachers, as well as clinicians were involved in the development and evaluation of the Dutch version of PEERS. Objectives: The current presentation covers (1) the formative phase and (2) the preliminary adaptation test phase of the cultural adaptation of evidence-based interventions. In the formative phase, we aim to describe the process of adaptation of the PEERS program to the Dutch culture and care system. In the preliminary adaptation phase, we will present results from the preliminary adaptation test among 32 adolescents with ASD. Methods: In phase 1, a group discussion on common vocabulary was conducted among 70 teenagers (and their teachers) from special and regular education aged 12-18 years old. This inventory concerned 14 key constructs from PEERS, e.g., areas of interests, locations for making friends, common peer groups and crowds inside and outside of school, activities with friends, commonly used ways for electronic communication, ways for handling disagreements, and common teasing comebacks. Also, 15 clinicians were involved in the translation and cultural adaptation process. The translation and cultural adaptation process were guided by the research team, and who included input and feedback from all stakeholders through an iterative feedback incorporation procedure. In phase 2, The parent-reported Social Responsiveness Scale (SRS), the Test of Adolescent Social Skills Knowledge (TASSK), and the Quality of Socialization Questionnaire (QSQ) were assessed pre- and post-intervention to evaluate potential treatment outcome. Results: The most striking cultural adaptation - reflecting the standpoints of all stakeholders - concerned the strategies for handling rumors and gossip, which were suggested to be taught using a similar approach as the teasing comebacks, more in line with ‘down-to-earth’ Dutch standards. The preliminary testing of this adapted version indicated that the adolescents with ASD significantly improved their social knowledge (TASSK; t₃₁ = -10.9, p < .01), social experience (QSQ-Parent; t₃₁ = -4.2, p < .01 and QSQ-Adolescent; t₃₂ = -3.8, p < .01), and in parent-reported social responsiveness (SRS; t₃₃ = 3.9, p < .01). In addition, subjective evaluations of teens with ASD, their parents and clinicians were positive. Conclusions: In order to further scrutinize the effectiveness of the Dutch version of the PEERS intervention, we recommended performing a larger scale randomized control trial (RCT) design, for which we provide several methodological considerations.

Keywords: cultural adaptation, PEERS, preliminary testing, translation

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Authors: Isomar Lima da Silva, Alcilene Batalha Pontes, Aristeu Jonatas Leite de Oliveira, Roberto Maia Augusto

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Context: Mechanical ventilators are medical devices that help provide oxygen and ventilation to patients with respiratory difficulties. This equipment consists of a manual breathing unit that can be operated by a doctor or nurse and a mechanical ventilator that controls the airflow and pressure in the patient's respiratory system. This type of ventilator is commonly used in emergencies and intensive care units where it is necessary to provide breathing support to critically ill or injured patients. Objective: In this context, this work aims to develop a reliable and low-cost mechanical ventilator to meet the demand of hospitals in treating people affected by Covid-19 and other severe respiratory diseases, offering a chance of treatment as an alternative to mechanical ventilators currently available in the market. Method: The project presents the development of a low-cost auxiliary ventilator with a controlled ventilatory system assisted by integrated hardware and firmware for respiratory cycle control in non-invasive mechanical ventilation treatments using a manual artificial respiration unit. The hardware includes pressure sensors capable of identifying positive expiratory pressure, peak inspiratory flow, and injected air volume. The embedded system controls the data sent by the sensors. It ensures efficient patient breathing through the operation of the sensors, microcontroller, and actuator, providing patient data information to the healthcare professional (system operator) through the graphical interface and enabling clinical parameter adjustments as needed. Results: The test data of the developed mechanical ventilator presented satisfactory results in terms of performance and reliability, showing that the equipment developed can be a viable alternative to commercial mechanical ventilators currently available, offering a low-cost solution to meet the increasing demand for respiratory support equipment.

Keywords: mechanical fans, breathing, medical equipment, COVID-19, intensive care units

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Authors: Seung Chul Lee, Jooyeong Kim, Ki Ok Ahn, Juok Park

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Background: Injuries caused by motorcycle crashes are one of the major public health burdens leading to high mortality, functional disability. The risk of death among motorcyclists is 30 times greater than that among car drivers, with head injuries the leading cause of death. The motorcycle helmet is crucial protective equipment for motorcyclists. Aims: This study aimed to measure the protective effect of motorcycle helmet use on intracranial injury and mortality and to compare the preventive effect in drivers and passengers. Methods: This is a cross-sessional study based on the Emergency Department (ED)–based Injury In-depth Surveillance (EDIIS) database from 23 EDs in Korea. All of the trauma patients injured in motorcycle crashes between January 1, 2013 and December 31, 2016 were eligible, excluding cases with unknown helmet use and outcomes. The primary and secondary outcomes were intracranial injury and in-hospital mortality. We calculated adjusted odds ratios (AORs) of helmet use for study outcomes after adjusting for potential confounders. Using interaction models, we compared the protective effect of helmet use on outcomes across driving status (driver and passenger). Results: Among 17,791 eligible patients, 10,668 (60.0%) patients were wearing helmets at the time of the crash, 2,128 (12.0%) patients had intracranial injuries and 331 (1.9%) patients had in-hospital death. 16,381 (92.1%) patients were drivers and 1410 (7.9%) patients were passengers. 62.6% of drivers and 29.1% of passengers were wearing helmets at the time of the crash. Compared to un-helmeted group, the helmeted group was less likely to have an intracranial injury(8.0% vs. 17.9%, AOR: 0.43 (0.39-0.48)) and in-hospital mortality (1.0% vs. 3.2%, AOR: 0.29 (0.22-0.37)).In the interaction model, AORs (95% CIs) of helmet use for intracranial injury were 0.42 (0.38-0.47) in drivers and 0.61(0.41-0.90) in passengers, respectively. There was a significant preventive effect of helmet use on in-hospital mortality in drivers (AOR: 0.26(0.21–0.34)). Discussion and conclusions: Wearing helmets in motorcycle crashes reduced intracranial injuries and in-hospital mortality. The preventive effect of motorcycle helmet use on intracranial injury was stronger in drivers than in passengers. There was a significant preventive effect of helmet use on in-hospital mortality in driver but not in passengers. Public health efforts to increase motorcycle helmet use are needed to reduce health burden from injuries caused by motorcycle crashes.

Keywords: intracranial injury, helmet, mortality, motorcycle crashes

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Authors: A. Raj Kumar, S. Bilaloglu

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Stroke is a leading cause of adult disability worldwide. We depend on our hands for our activities of daily living(ADL). Although many patients regain the ability to walk, they continue to experience long-term hand motor impairments. As the number of individuals with young stroke is increasing, there is a critical need for effective approaches for rehabilitation of hand function post-stroke. Motor relearning for dexterity requires task-specific kinesthetic, tactile and visual feedback. However, when a stroke results in both sensory and motor impairment, it becomes difficult to ascertain when and what type of sensory substitutions can facilitate motor relearning. In an ideal situation, real-time task-specific data on the ability to learn and data-driven feedback to assist such learning will greatly assist rehabilitation for dexterity. We have found that kinesthetic and tactile information from the unaffected hand can assist patients re-learn the use of optimal fingertip forces during a grasp and lift task. Measurement of fingertip grip force (GF), load forces (LF), their corresponding rates (GFR and LFR), and other metrics can be used to gauge the impairment level and progress during learning. Currently ATI mini force-torque sensors are used in research settings to measure and compute the LF, GF, and their rates while grasping objects of different weights and textures. Use of the ATI sensor is cost prohibitive for deployment in clinical or at-home rehabilitation. A cost effective mechatronic device is developed to quantify GF, LF, and their rates for stroke rehabilitation purposes using off-the-shelf components such as load cells, flexi-force sensors, and an Arduino UNO microcontroller. A salient feature of the device is its integration with an interactive gaming environment to render a highly engaging user experience. This paper elaborates the integration of kinesthetic and tactile sensing through computation of LF, GF and their corresponding rates in real time, information processing, and interactive interfacing through augmented reality for visual feedback.

Keywords: feedback, gaming, kinesthetic, rehabilitation, tactile

Procedia PDF Downloads 237

Authors: Anita Paddy, Millicent Obodai, Lebbaeus Asamani

Abstract:

The management of sickle cell disease requires a multidisciplinary team for better outcomes. Thus, literature on the application of the biopsychosocial model for the management and explanation of chronic pain in sickle cell disease (SCD) and other chronic diseases abound. However, there is limited research on the use of the biopsychosocial model, together with a spiritual component (biopsychosocial-spiritual model). The study investigated the extent to which healthcare providers utilized the biopsychosocial-spiritual model in the management of chronic pain to improve the quality of life (QoL) of patients with SCD. This study employed the descriptive survey design involving a consecutive sampling of 261 patients with SCD who were between the ages of 18 to 79 years and were accessing hematological services at the Clinical Genetics Department of the Korle Bu Teaching Hospital. These patients willingly consented to participate in the study by appending their signatures. The theory of integrated quality of life, the gate control theory of pain and the biopsychosocial(spiritual) model were tested. An instrument for the biopsychosocial-spiritual model was developed, with a basis from the literature reviewed, while the World Health Organisation Quality of Life BREF (WHOQoLBref) and the spirituality rating scale were adapted and used for data collection. Data were analyzed using descriptive statistics (means, standard deviations, frequencies, and percentages) and partial least square structural equation modeling. The study revealed that healthcare providers had a great leaning toward the biological domain of the model compared to the other domains. Hence, participants’ QoL was not fully improved as suggested by the biopsychosocial(spiritual) model. Again, the QoL and spirituality of patients with SCD were quite high. A significant negative impact of spirituality on QoL was also found. Finally, the biosocial domain of the biopsychosocial-spiritual model was the most significant predictor of QoL. It was recommended that policymakers train healthcare providers to integrate the psychosocial-spiritual component in health services. Also, education on SCD and its resultant impact from the domains of the model should be intensified while health practitioners consider utilizing these components fully in the management of the condition.

Keywords: biopsychosocial (spritual), sickle cell disease, quality of life, healthcare, accra

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