Search results for: genetic diagnosis

Authors: Teagan Fink, Lynn Chong, Michael Hii, Brett Knowles

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Background: Telemedicine is a rapidly advancing field providing healthcare to patients at a distance from their treating clinician. There is a paucity of high-quality evidence detailing the safety and acceptability of telemedicine for postoperative outpatient follow-up. This randomized controlled trial – conducted prior to the COVID 19 pandemic – aimed to assess patient satisfaction and safety (as determined by readmission, reoperation and complication rates) of telephone compared to face-to-face clinic follow-up after uncomplicated general surgical procedures. Methods: Patients following uncomplicated laparoscopic appendicectomy or cholecystectomy and laparoscopic or open umbilical or inguinal hernia repairs were randomized to a telephone or face-to-face outpatient clinic follow-up. Data points including patient demographics, perioperative details and postoperative outcomes (eg. wound healing complications, pain scores, unplanned readmission to hospital and return to daily activities) were compared between groups. Patients also completed a Likert patient satisfaction survey following their consultation. Results: 103 patients were recruited over a 12-month period (21 laparoscopic appendicectomies, 65 laparoscopic cholecystectomies, nine open umbilical hernia repairs, six laparoscopic inguinal hernia repairs and two laparoscopic umbilical hernia repairs). Baseline patient demographics and operative interventions were the same in both groups. Patient or clinician-reported concerns on postoperative pain, use of analgesia, wound healing complications and return to daily activities at clinic follow-up were not significantly different between the two groups. Of the 58 patients randomized to the telemedicine arm, 40% reported high and 60% reported very high patient satisfaction. Telemedicine clinic mean consultation times were significantly shorter than face-to-face consultation times (telemedicine 10.3 +/- 7.2 minutes, face-to-face 19.2 +/- 23.8 minutes, p-value = 0.014). Rates of failing to attend clinic were not significantly different (telemedicine 3%, control 6%). There was no increased rate of postoperative complications in patients followed up by telemedicine compared to in-person. There were no unplanned readmissions, return to theatre, or mortalities in this study. Conclusion: Telemedicine follow-up of patients undergoing uncomplicated general surgery is safe and does not result in any missed diagnosis or higher rates of complications. Telemedicine provides high patient satisfaction and steps to implement this modality in inpatient care should be undertaken.

Keywords: general surgery, telemedicine, patient satisfaction, patient safety

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Authors: Patience Manjengwa-Hungwe, Carmen White

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Background: Odyssean malaria refers to malaria acquired by infected mosquito bites from malaria endemic to non-endemic regions by mechanical modes of transport, such as airplanes, water vessels, trains and vehicles. Odyssean Malaria is rare and is characterised by absence of travel history to malaria endemic areas. As not anticipated in non-endemic areas, late diagnosis and treatment lead to a high case fatality rate. On 26 September 2014, the Outbreak Response Unit at the National Institute of Communicable Diseases was notified of a suspected death from Odyssean Malaria in Johannesburg, Gauteng Province, a non-endemic area. The main objective of this investigation was to identify the etiological agent's mode and source of transmission. Methods: Epidemiological surveys were conducted with the deceased’s family and clinical details were obtained from doctors who treated the victim in Southrand, Johannesburg. Blood samples were collected prior to death and sent to the National Health Laboratory Services, Johannesburg laboratory for a full blood count, urea electrolytes, creatinine, and C-reactive protein. Environmental assessments and entomological investigations, including collection of mosquito and larvae, were conducted at the deceased’s home and surrounding areas and sent to the laboratory for analysis. Results: Epidemiological surveys revealed no travel history, no mechanical transmission through blood transfusion and no previous possible exposure of the victim to malaria mosquitoes. Laboratory findings indicated that the platelet count was low. A further smear revealed that the malaria parasite was present and malaria antigen for P. falciparum was positive. Entomological findings revealed that none of the six adult or larval mosquitoes collected on site were malaria vectors. Dumping sites found at the back of the house were identified as possible sites where mosquitoes from endemic places could possibly breed. Conclusion: Given that there was no travel history or the possibility of mechanical transmission (blood transfusion or needle), the research team concluded that it is highly probable that the infection was acquired through an infective Anopheles mosquito inadvertently translocated from a Malaria endemic area by mechanical modes of transport. We recommend that clinicians in non-endemic malaria areas be aware of this type of malaria and test for malaria in patients showing malaria-like symptoms.

Keywords: Odyssean Malaria, vector Bourne, malaria, epidemiological surveys

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Authors: Kyung Jin Kim, Jiwon Kwak, Jae-Hoon Lee, Soo Suk Lee

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MicroRNAs (miRNA) are a class of endogenous, single-stranded, small, and non-protein coding RNA molecules typically 20-25 nucleotides long. They are thought to regulate the expression of other genes in a broad range by binding to 3’- untranslated regions (3’-UTRs) of specific mRNAs. The detection of miRNAs is very important for understanding of the function of these molecules and in the diagnosis of variety of human diseases. However, detection of miRNAs is very challenging because of their short length and high sequence similarities within miRNA families. So, a simple-to-use, low-cost, and highly sensitive method for the detection of miRNAs is desirable. In this study, we demonstrate a novel bi-directional extension (BDE) assay. In the first step, a specific linear RT primer is hybridized to 6-10 base pairs from the 3’-end of a target miRNA molecule and then reverse transcribed to generate a cDNA strand. After reverse transcription, the cDNA was hybridized to the 3’-end which is BDE sequence; it played role as the PCR template. The PCR template was amplified in an SYBR green-based quantitative real-time PCR. To prove the concept, we used human brain total RNA. It could be detected quantitatively in the range of seven orders of magnitude with excellent linearity and reproducibility. To evaluate the performance of BDE assay, we contrasted sensitivity and specificity of the BDE assay against a commercially available poly (A) tailing method using miRNAs for let-7e extracted from A549 human epithelial lung cancer cells. The BDE assay displayed good performance compared with a poly (A) tailing method in terms of specificity and sensitivity; the CT values differed by 2.5 and the melting curve showed a sharper than poly (A) tailing methods. We have demonstrated an innovative, cost-effective BDE assay that allows improved sensitivity and specificity in detection of miRNAs. Dynamic range of the SYBR green-based RT-qPCR for miR-145 could be represented quantitatively over a range of 7 orders of magnitude from 0.1 pg to 1.0 μg of human brain total RNA. Finally, the BDE assay for detection of miRNA species such as let-7e shows good performance compared with a poly (A) tailing method in terms of specificity and sensitivity. Thus BDE proves a simple, low cost, and highly sensitive assay for various miRNAs and should provide significant contributions in research on miRNA biology and application of disease diagnostics with miRNAs as targets.

Keywords: bi-directional extension (BDE), microRNA (miRNA), poly (A) tailing assay, reverse transcription, RT-qPCR

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Authors: Rohit Kothari

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Background: Leprosyis a chronic granulomatous diseasecaused by Mycobacterium leprae (M. Lepra). Reactions may interrupt its usual chronic course.Type-1 (T1R)and type-2 lepra reaction(T2R) are acute events and signifytype-IV and type-III hypersensitivity responses, respectively. Various chemokines like CCL3, 5, 11, and CCL24 may be increased during the course of leprosy or during reactions and may serve as markers of early diagnosis, response to therapy, and prognosis. Objective: To find correlation of CCL3, 5, 11, and CCL24 in leprosy patients on multidrug therapy and their family contacts after ruling out active disease during leprosy treatment and during periods of lepra reactions. Methodology: This randomized control trial was conducted in 50 clinico-histopathologically diagnosed cases of leprosy in a tertiary care hospital in Bengaluru, India. 50 of their family contacts were adequately examined and investigated should the need be to rule out active disease. The two study-groups comprised of leprosy cases, and the age, sex, and area of residence matched healthy contactswho were given single-dose rifampicin prophylaxis, respectively. Blood samples were taken at baseline, six months, and after one yearin both the groups (on completion of MDT in leprosy cases)and also during periods of reaction if occurred in leprosy cases. Results: Our study found that at baseline, CCL5, 11, and 24 were higher in leprosy cases as compared to the healthy contacts, and the difference was statistically significant.CCL3 was also found to be higherat baseline in leprosy cases, however, the difference was not statistically significant. At six months and one year, the levels of CCL 5, 11, and 24 reduced, and the difference was statistically significant in leprosy cases, whereas it remained almost static in all the healthy contacts. Twenty patients of leprosy developed lepra reaction during the course of one year, and during reaction, the increase in CCL11 and 24 was statistically significant from baseline, whereas CCL3 and 5 did not rise significantly. One of the healthy contacts developed signs of leprosy in the form of hypopigmented numb patch and was clinico-histopathologically, and CCL11 and 24 were found to be higher with a statistically significant difference from the baseline values. Conclusion: CCL5, 11, and 24 are sensitive markers of diagnosing leprosy, response to MDT, and prognosis and are not increased in healthy contacts. CCL11 and 24 are sensitive markers of lepra reactions and may serve as one of the early diagnostic modalities for identifying lepra reaction and also leprosy in healthy contacts. To the best of our knowledge, this is the first study to evaluate these biomarkers in leprosy cases and their healthy contacts with a follow-up of upto one year with one of them developing the disease, and the same was confirmed based on these biomarkers as well.

Keywords: chemokine profile, healthy contacts, leprosy, lepra reactions

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Authors: Abdoulie K. Ceesay

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Within the sequence of the whole genome, it is known that 99.9% of the human genome is similar, whilst our difference lies in just 0.1%. Among these minor dissimilarities, the most common type of genetic variations that occurs in a population is SNP, which arises due to nucleotide substitution in a protein sequence that leads to protein destabilization, alteration in dynamics, and other physio-chemical properties’ distortions. While causing variations, they are equally responsible for our difference in the way we respond to a treatment or a disease, including various cancer types. There are two types of SNPs; synonymous single nucleotide polymorphism (sSNP) and non-synonymous single nucleotide polymorphism (nsSNP). sSNP occur in the gene coding region without causing a change in the encoded amino acid, while nsSNP is deleterious due to its replacement of a nucleotide residue in the gene sequence that results in a change in the encoded amino acid. Predicting the effects of cancer related nsSNPs on protein stability, function, and dynamics is important due to the significance of phenotype-genotype association of cancer. In this thesis, Data of 5 oncogenes (ONGs) (AKT1, ALK, ERBB2, KRAS, BRAF) and 5 tumor suppressor genes (TSGs) (ESR1, CASP8, TET2, PALB2, PTEN) were retrieved from ClinVar. Five common in silico tools; Polyphen, Provean, Mutation Assessor, Suspect, and FATHMM, were used to predict and categorize nsSNPs as deleterious, benign, or neutral. To understand the impact of each variation on the phenotype, Maestro, PremPS, Cupsat, and mCSM-NA in silico structural prediction tools were used. This study comprises of in-depth analysis of 10 cancer gene variants downloaded from Clinvar. Various analysis of the genes was conducted to derive a meaningful conclusion from the data. Research done indicated that pathogenic variants are more common among ONGs. Our research also shows that pathogenic and destabilizing variants are more common among ONGs than TSGs. Moreover, our data indicated that ALK(409) and BRAF(86) has higher benign count among ONGs; whilst among TSGs, PALB2(1308) and PTEN(318) genes have higher benign counts. Looking at the individual cancer genes predisposition or frequencies of causing cancer according to our research data, KRAS(76%), BRAF(55%), and ERBB2(36%) among ONGs; and PTEN(29%) and ESR1(17%) among TSGs have higher tendencies of causing cancer. Obtained results can shed light to the future research in order to pave new frontiers in cancer therapies.

Keywords: tumor suppressor genes (TSGs), oncogenes (ONGs), non synonymous single nucleotide polymorphism (nsSNP), single nucleotide polymorphism (SNP)

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Authors: Nupur A. D., Miah M. S., Moniruzzaman S. K.

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Autism is a neurobiological disorder that affects physical, social, and language skills of a person. A child with autism feels difficulty for processing, integrating, and responding to sensory stimuli. Current estimates have shown that 45% to 96 % of children with Autism Spectrum Disorder demonstrate sensory difficulties. As autism is a worldwide burning issue, it has become a highly prioritized and important service provision in Bangladesh. The sensory deficit does not only hamper the normal development of a child, it also hampers the learning process and functional independency. The purpose of this study was to find out the prevalence of sensory dysfunction among children with autism and recognize common patterns of sensory dysfunction. A cross-sectional study design was chosen to carry out this research work. This study enrolled eighty children with autism and their parents by using the systematic sampling method. In this study, data were collected through the Short Sensory Profile (SSP) assessment tool, which consists of 38 items in the questionnaire, and qualified graduate Occupational Therapists were directly involved in interviewing parents as well as observing child responses to sensory related activities of the children with autism from four selected autism centers in Dhaka, Bangladesh. All item analyses were conducted to identify items yielding or resulting in the highest reported sensory processing dysfunction among those children through using SSP and Statistical Package for Social Sciences (SPSS) version 21.0 for data analysis. This study revealed that almost 78.25% of children with autism had significant sensory processing dysfunction based on their sensory response to relevant activities. Under-responsive sensory seeking and auditory filtering were the least common problems among them. On the other hand, most of them (95%) represented that they had definite to probable differences in sensory processing, including under-response or sensory seeking, auditory filtering, and tactile sensitivity. Besides, the result also shows that the definite difference in sensory processing among 64 children was within 100%; it means those children with autism suffered from sensory difficulties, and thus it drew a great impact on the children’s Daily Living Activities (ADLs) as well as social interaction with others. Almost 95% of children with autism require intervention to overcome or normalize the problem. The result gives insight regarding types of sensory processing dysfunction to consider during diagnosis and ascertaining the treatment. So, early sensory problem identification is very important and thus will help to provide appropriate sensory input to minimize the maladaptive behavior and enhance to reach the normal range of adaptive behavior.

Keywords: autism, sensory processing difficulties, sensory profile, occupational therapy

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Authors: Melvin Sethobya, Sithule Xanga, Sechaba Lenong, Lunga Nolakana, Gbenga Adesola

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Mining has been the cornerstone of the South African economy for the last century. Most of the gold mining in South Africa was conducted within the Witwatersrand basin, which contributed to the rapid growth of the city of Johannesburg and capitulated the city to becoming the business and wealth capital of the country. But with gradual depletion of resources, a stoppage in the extraction of underground water from mines and other factors relating to survival of the mining operations over a lengthy period, most of the mines were abandoned and left to pollute the local waterways and groundwater with toxins, heavy metal residue and increased acid mine drainage ensued. The Department of Mineral Resources and Energy commissioned a project whose aim is to monitor, maintain, and mitigate the adverse environmental impacts of polluted water mine water flowing into local streams affecting local ecosystems and livelihoods downstream. As part of mitigation efforts, the diagnosis and monitoring of groundwater or surface water polluted sites has become important. Geophysical surveys, in particular, Resistivity and Magnetics surveys, were selected as some of most suitable techniques for investigation of local ingress points along of one the major streams cutting through the Witwatersrand basin, namely the Blesbokspruit, which is found in the eastern part of the basin. The aim of the surveys was to provide information that could be used to assist in determining possible water loss/ ingress from the Blesbokspriut stream. Modelling of geophysical surveys results offered an in-depth insight into the interaction and pathways of polluted water through mapping of possible ingress channels near the Blesbokspruit. The resistivity - depth profile of the surveyed site exhibit a three(3) layered model with low resistivity values (10 to 200 Ω.m) overburden, which is underlain by a moderate resistivity weathered layer (>300 Ω.m), which sits on a more resistive crystalline bedrock (>500 Ω.m). Two locations of potential ingress channels were mapped across the two traverses at the site. The magnetic survey conducted at the site mapped a major NE-SW trending regional linearment with a strong magnetic signature, which was modeled to depth beyond 100m, with the potential to act as a conduit for dispersion of stream water away from the stream, as it shared a similar orientation with the potential ingress channels as mapped using the resistivity method.

Keywords: eletrictrical resistivity, magnetics survey, blesbokspruit, ingress

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Authors: Umut Kokbas, Mustafa Nisari

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Immunoglobulins, also known as antibodies, are glycoprotein molecules produced by activated B cells that transform into plasma cells and result in them. Antibodies are critical molecules of the immune response to fight, which help the immune system specifically recognize and destroy antigens such as bacteria, viruses, and toxins. Immunoglobulin classes differ in their biological properties, structures, targets, functions, and distributions. Five major classes of antibodies have been identified in mammals: IgA, IgD, IgE, IgG, and IgM. Evaluation of the immunoglobulin isotype can provide a useful insight into the complex humoral immune response. Evaluation and knowledge of immunoglobulin structure and classes are also important for the selection and preparation of antibodies for immunoassays and other detection applications. The immunoglobulin test measures the level of certain immunoglobulins in the blood. IgA, IgG, and IgM are usually measured together. In this way, they can provide doctors with important information, especially regarding immune deficiency diseases. Hypogammaglobulinemia (HGG) is one of the main groups of primary immunodeficiency disorders. HGG is caused by various defects in B cell lineage or function that result in low levels of immunoglobulins in the bloodstream. This affects the body's immune response, causing a wide range of clinical features, from asymptomatic diseases to severe and recurrent infections, chronic inflammation and autoimmunity Transient infant hypogammaglobulinemia (THGI), IgM deficiency (IgMD), Bruton agammaglobulinemia, IgA deficiency (SIgAD) HGG samples are a few. Most patients can continue their normal lives by taking prophylactic antibiotics. However, patients with severe infections require intravenous immune serum globulin (IVIG) therapy. The IgE level may rise to fight off parasitic infections, as well as a sign that the body is overreacting to allergens. Also, since the immune response can vary with different antigens, measuring specific antibody levels also aids in the interpretation of the immune response after immunization or vaccination. Immune deficiencies usually occur in childhood. In Immunology and Allergy clinics, apart from the classical methods, it will be more useful in terms of diagnosis and follow-up of diseases, if it is fast, reliable and especially in childhood hypogammaglobulinemia, sampling from children with a method that is more convenient and uncomplicated. The antibodies were attached to the electrode surface via the poly hydroxyethyl methacrylamide cysteine nanopolymer. It was used to evaluate the anodic peak results obtained in the electrochemical study. According to the data obtained, immunoglobulin determination can be made with a biosensor. However, in further studies, it will be useful to develop a medical diagnostic kit with biomedical engineering and to increase its sensitivity.

Keywords: biosensor, immunosensor, immunoglobulin, infection

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Authors: Sharmeen Rahman, Daniel Schmidt, Jane Hughes

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

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

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Authors: Zhihui Liu, Dongmei Hao, Qian Qiu, Yang An, Lin Yang, Song Zhang, Yimin Yang, Xuwen Li, Dingchang Zheng

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Premature birth, defined as birth before 37 completed weeks of gestation is a leading cause of neonatal morbidity and mortality and has long-term adverse consequences for health. It has recently been reported that the worldwide preterm birth rate is around 10%. The existing measurement techniques for diagnosing preterm delivery include tocodynamometer, ultrasound and fetal fibronectin. However, they are subjective, or suffer from high measurement variability and inaccurate diagnosis and prediction of preterm labor. Electrohysterography (EHG) method based on recording of uterine electrical activity by electrodes attached to maternal abdomen, is a promising method to assess uterine activity and diagnose preterm labor. The purpose of this study is to analyze the difference of EHG signal features between term labor and preterm labor. Free access database was used with 300 signals acquired in two groups of pregnant women who delivered at term (262 cases) and preterm (38 cases). Among them, EHG signals from 38 term labor and 38 preterm labor were preprocessed with band-pass Butterworth filters of 0.08–4Hz. Then, EHG signal features were extracted, which comprised classical time domain description including root mean square and zero-crossing number, spectral parameters including peak frequency, mean frequency and median frequency, wavelet packet coefficients, autoregression (AR) model coefficients, and nonlinear measures including maximal Lyapunov exponent, sample entropy and correlation dimension. Their statistical significance for recognition of two groups of recordings was provided. The results showed that mean frequency of preterm labor was significantly smaller than term labor (p < 0.05). 5 coefficients of AR model showed significant difference between term labor and preterm labor. The maximal Lyapunov exponent of early preterm (time of recording < the 26th week of gestation) was significantly smaller than early term. The sample entropy of late preterm (time of recording > the 26th week of gestation) was significantly smaller than late term. There was no significant difference for other features between the term labor and preterm labor groups. Any future work regarding classification should therefore focus on using multiple techniques, with the mean frequency, AR coefficients, maximal Lyapunov exponent and the sample entropy being among the prime candidates. Even if these methods are not yet useful for clinical practice, they do bring the most promising indicators for the preterm labor.

Keywords: electrohysterogram, feature, preterm labor, term labor

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Authors: M. H. A. D. de Silva, R. P. Hewawasam, M. A. G. Iresha

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Macrosomia is common in infants born to not only women diagnosed with gestational diabetes mellitus but also non-diabetic obese women. Maternal Body Mass Index (BMI) correlates with the incidence of large for gestational age infants. Obesity has reached epidemic levels in modern societies. During the past two decades, obesity in children and adolescents has risen significantly in Asian populations including Sri Lanka. There is increasing evidence to believe that infants who are born large for gestational age are more likely to be obese in childhood and adolescence and are at risk of cardiovascular and metabolic complications later in life. It is also established that Asians have lower skeletal muscle mass, low bone mineral content and excess body fat for a given BMI indicating a genetic predisposition in the occurrence of obesity. The objective of this study is to determine the effect of maternal weight, weight gain during pregnancy, c-peptide and insulin concentrations in the cord blood on the birth of appropriate for and large for gestational age infants in a tertiary care center in Southern Sri Lanka. Umbilical cord blood was collected from 90 newborns (Male 40, Female 50; gestational age 35-42 weeks) after double clamping the umbilical cord before separation of the placenta and the concentration of insulin and C-peptide were measured by ELISA technique. Anthropometric parameters of the newborn such as birth weight, length, ponderal index, occipital frontal, chest, hip and calf circumferences were measured, and characteristics of the mother were collected. The relationship between insulin, C-peptide and anthropometrics were assessed by Spearman correlation. The multiple logistic regression analysis examined influences of maternal weight, weight gain during pregnancy, C-peptide and insulin concentrations in cord blood as covariates on the birth of large for gestational age infants. A significant difference (P<0.001) was observed between the insulin levels of infants born large for gestational age (18.73 ± 0.52 µlU/ml) and appropriate for gestational age (13.08 ± 0.56 µlU/ml). Consistently, A significant decrease in concentration (41.68%, P<0.001) was observed between C-peptide levels of infants born large for gestational age and appropriate for gestational age. Cord blood insulin and C-peptide levels had a significant correlation with birth weight (r=0.35, P<0.05) of the newborn at delivery. Maternal weight and BMI which are indicators of maternal nutrition were proven to be directly correlated with birth weight and length. To our knowledge, this relationship was investigated for the first time in a Sri Lankan setting and was also evident in our results. This study confirmed the fact that insulin and C-peptide play a major role in regulating fetal growth. According to the results obtained in this study, we can suggest that the increased BMI of the mother has a direct influence on increased maternal insulin secretion, which may subsequently affect cord insulin and C-peptide levels and also birth weight of the infant.

Keywords: C-peptide, insulin, large for gestational age, maternal weight

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Authors: Tiffanie-Marie Borg, Yasmin Zeinolabediny, Nima Heidari, Ali Noorani, Mark Slevin, Angel Cullen, Stefano Olgiati, Alberto Zerbi, Alessandro Danovi, Adrian Wilson

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Knee Osteoarthritis (OA) is a critical cause of disability globally. In recent years, there has been growing interest in non-invasive treatments, such as intra-articular injection of micro-fragmented fat (MFAT), showing great potential in treating OA. Mesenchymal stem cells (MSCs), originating from pericytes of micro-vessels in MFAT, can differentiate into mesenchymal lineage cells such as cartilage, osteocytes, adipocytes, and osteoblasts. Secretion of growth factor and cytokines from MSCs have the capability to inhibit T cell growth, reduced pain and inflammation, and create a micro-environment that through paracrine signaling, can promote joint repair and cartilage regeneration. Here we have shown, for the first time, data supporting the hypothesis that women respond better in terms of improvements in pain and function to MFAT injection compared to men. Historically, women have been underrepresented in studies, and studies with both sexes regularly fail to analyse the results by sex. To mitigate this bias and quantify it, we describe a technique using reproducible statistical analysis and replicable results with Open Access statistical software R to calculate the magnitude of this difference. Genetic, hormonal, environmental, and age factors play a role in our observed difference between the sexes. This observational, intention-to-treat study included the complete sample of 456 patients who agreed to be scored for pain (visual analogue scale (VAS)) and function (Oxford knee score (OKS)) at baseline regardless of subsequent changes to adherence or status during follow-up. We report that a significantly larger number of women responded to treatment than men: [90% vs. 60% change in VAS scores with 87% vs. 65% change in OKS scores, respectively]. Women overall had a stronger positive response to treatment with reduced pain and improved mobility and function. Pre-injection, our cohort of women were in more pain with worse joint function which is quite common to see in orthopaedics. However, during the 2-year follow-up, they consistently maintained a lower incidence of discomfort with superior joint function. This data clearly identifies a clear need for further studies to identify the cell and molecular biological and other basis for these differences and be able to utilize this information for stratification in order to improve outcome for both women and men.

Keywords: gender differences, micro-fragmented adipose tissue, knee osteoarthritis, stem cells

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Authors: Matthew Cardeiro, Amalia D. Ardeljan, Lexi Frankel, Dianela Prado Escobar, Catalina Molnar, Omar M. Rashid

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Introduction: Enterococci comprise the natural flora of nearly all animals and are ubiquitous in food manufacturing and probiotics. However, its role in the microbiome remains controversial. The gut microbiome has shown to play an important role in immunology and cancer. Further, recent data has suggested a relationship between gut microbiota and breast cancer. These studies have shown that the gut microbiome of patients with breast cancer differs from that of healthy patients. Research regarding enterococcus infection and its sequala is limited, and further research is needed in order to understand the relationship between infection and cancer. Enterococcus may prevent the development of breast cancer (BC) through complex immunologic and microbiotic adaptations following an enterococcus infection. This study investigated the effect of enterococcus infection and the incidence of BC. Methods: A retrospective study (January 2010- December 2019) was provided by a Health Insurance Portability and Accountability Act (HIPAA) compliant national database and conducted using a Humans Health Insurance Database. International Classification of Disease (ICD) 9th and 10th codes, Current Procedural Terminology (CPT), and National Drug Codes were used to identify BC diagnosis and enterococcus infection. Patients were matched for age, sex, Charlson Comorbidity Index (CCI), antibiotic treatment, and region of residence. Chi-squared, logistic regression, and odds ratio were implemented to assess the significance and estimate relative risk. Results: 671 out of 28,518 (2.35%) patients with a prior enterococcus infection and 1,459 out of 28,518 (5.12%) patients without enterococcus infection subsequently developed BC, and the difference was statistically significant (p<2.2x10⁻¹⁶). Logistic regression also indicated enterococcus infection was associated with a decreased incidence of BC (RR=0.60, 95% CI [0.57, 0.63]). Treatment for enterococcus infection was analyzed and controlled for in both enterococcus infected and noninfected populations. 398 out of 11,523 (3.34%) patients with a prior enterococcus infection and treated with antibiotics were compared to 624 out of 11,523 (5.41%) patients with no history of enterococcus infection (control) and received antibiotic treatment. Both populations subsequently developed BC. Results remained statistically significant (p<2.2x10-16) with a relative risk of 0.57 (95% CI [0.54, 0.60]). Conclusion & Discussion: This study shows a statistically significant correlation between enterococcus infection and a decrease incidence of breast cancer. Further exploration is needed to identify and understand not only the role of enterococcus in the microbiome but also the protective mechanism(s) and impact enterococcus infection may have on breast cancer development. Ultimately, further research is needed in order to understand the complex and intricate relationship between the microbiome, immunology, bacterial infections, and carcinogenesis.

Keywords: breast cancer, enterococcus, immunology, infection, microbiome

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Authors: Walter Vera-Ortega, Idoia Busnadiego, Sam J. Wilson

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Introduction: Human Immunodeficiency Virus type 1 (HIV-1) is responsible for the acquired immunodeficiency syndrome (AIDS), a leading cause of death worldwide infecting millions of people each year. Despite intensive research in vaccine development, therapies against HIV-1 infection are not curative, and the huge genetic variability of HIV-1 challenges to drug development. Current animal models for HIV-1 research present important limitations, impairing the progress of in vivo approaches. Macaques require a CD8+ depletion to progress to AIDS, and the maintenance cost is high. Mice are a cheaper alternative but need to be 'humanized,' and breeding is not possible. The development of an HIV-1 clone able to replicate in mice is a challenging proposal. The lack of human co-factors in mice impedes the function of the HIV-1 accessory proteins, Tat and Rev, hampering HIV-1 replication. However, Tat and Rev function can be replaced by constitutive/chimeric promoters, codon-optimized proteins and the constitutive transport element (CTE), generating a novel HIV-1 clone able to replicate in mice without disrupting the amino acid sequence of the virus. By minimally manipulating the genomic 'identity' of the virus, we propose the generation of an HIV-1 clone able to replicate in mice to assist in antiviral drug development. Methods: i) Plasmid construction: The chimeric promoters and CTE copies were cloned by PCR using lentiviral vectors as templates (pCGSW and pSIV-MPCG). Tat mutants were generated from replication competent HIV-1 plasmids (NHG and NL4-3). ii) Infectivity assays: Retroviral vectors were generated by transfection of human 293T cells and murine NIH 3T3 cells. Virus titre was determined by flow cytometry measuring GFP expression. Human B-cells (AA-2) and Hela cells (TZMbl) were used for infectivity assays. iii) Protein analysis: Tat protein expression was determined by TZMbl assay and HIV-1 capsid by western blot. Results: We have determined that NIH 3T3 cells are able to generate HIV-1 particles. However, they are not infectious, and further analysis needs to be performed. Codon-optimized HIV-1 constructs are efficiently made in 293T cells in a Tat and Rev independent manner and capable of packaging a competent genome in trans. CSGW is capable of generating infectious particles in the absence of Tat and Rev in human cells when 4 copies of the CTE are placed preceding the 3’LTR. HIV-1 Tat mutant clones encoding different promoters are functional during the first cycle of replication when Tat is added in trans. Conclusion: Our findings suggest that the development of an HIV-1 Tat-Rev independent clone is challenging but achievable aim. However, further investigations need to be developed prior presenting our HIV-1 clone as a candidate model for research.

Keywords: codon-optimized, constitutive transport element, HIV-1, long terminal repeats, research model

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Authors: Anna Bak-Klimek, Emily Spencer, Siew Lee, Karen Campbell, Wendy McInally

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Background & Significance: Over half of Teenagers and Young Adults (TYAs) say that they experience psychological distress after cancer diagnosis and TYAs with cancer are at higher risk of developing distress compared to other age groups. Despite this there are no age-appropriate interventions to help TYAs manage distress and there is a lack of conceptual understanding of what causes distress in this population group. This makes it difficult to design a targeted, developmentally appropriate intervention. This review aims to identify the key determinants of distress in TYAs affected by cancer and to propose an integrative model of cancer-related distress for TYAs. Method: A literature search was performed in Cochrane Database of Systematic Reviews, MEDLINE, PsycINFO, CINAHL, EMBASE and PsycArticles in May-June, 2022. Quantitative literature was systematically reviewed on the relationship between psychological distress experienced by TYAs affected by cancer and a wide range of factors i.e. individual (demographic, psychological, developmental, and clinical factors) and contextual (social/environmental) factors. Evidence was synthesized and correlates were categorized using the Biopsychosocial Model. The full protocol is available from PROSPERO (CRD42022322069) Results: Thirty eligible quantitative studies met criteria for the review. A total of twenty-six studies were cross-sectional, three were longitudinal and one study was a case control study. The evidence on the relationship between the socio-demographic, illness and treatment-related factors and psychological distress is inconsistent and unclear. There is however consistent evidence on the link between psychological factors and psychological distress. For instance, the use of cognitive and defence coping, negative meta-cognitive beliefs, less optimism, a lack of sense of meaning and lower resilience levels were significantly associated with higher psychological distress. Furthermore, developmental factors such as poor self-image, identity issues and perceived conflict were strongly associated with higher distress levels. Conclusions: The current review suggests that psychological and developmental factors such as ineffective coping strategies, poor self-image and identity issues may play a key role in the development of psychological distress in TYAs affected by cancer. The review proposes a Positive Developmental Psychology Model of Distress for Teenagers and Young Adults affected by cancer. The review highlights that implementation of psychological interventions that foster optimism, improve resilience and address self-image may result in reduced distress in TYA’s with cancer.

Keywords: cancer, determinant, psychological distress, teenager and young adult, theoretical model

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Authors: Hanieh Sakha, Nader Nader, Haleh Farzin

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Introduction: Throughout history, pain theories have been supposed by biomedicine, especially regarding its diagnosis and treatment aspects. Therefore, the feeling of pain is not only a personal experience and is affected by social background; therefore, it involves extensive systems of signals. The challenges in emotional and sentimental dimensions of pain originate from scientific medicine (i.e., the dominant theory is also referred to as the specificity theory); however, this theory has accepted some alterations by emerging physiology. Then, Von Frey suggested the theory of cutaneous senses (i.e., Muller’s concept: the common sensation of combined four major skin receptors leading to a proper sensation) 50 years after the specificity theory. The pain pathway was composed of spinothalamic tracts and thalamus with an inhibitory effect on the cortex. Pain is referred to as a series of unique experiences with various reasons and qualities. Despite the gate control theory, the biological aspect overcomes the social aspect. Vrancken provided a more extensive definition of pain and found five approaches: Somatico-technical, dualistic body-oriented, behaviorist, phenomenological, and consciousness approaches. The Western model combined physical, emotional, and existential aspects of the human body. On the other hand, Kotarba felt confused about the basic origins of chronic pain. Freund demonstrated and argued with Durkhemian about the sociological approach to emotions. Lynch provided a piece of evidence about the correlation between cardiovascular disease and emotionally life-threatening occurrences. Helman supposed a distinction between private and public pain. Conclusion: The consideration of the emotional aspect of pain could lead to effective, emotional, and social responses to pain. On the contrary, the theory of embodiment is based on the sociological view of health and illness. Social epidemiology shows an imbalanced distribution of health, illness, and disability among various social groups. The social support and socio-cultural level can result in several types of pain. It means the status of athletes might define their pain experiences. Gender is one of the important contributing factors affecting the type of pain (i.e., females are more likely to seek health services for pain relief.) Chronic non-cancer pain (CNCP) has become a serious public health issue affecting more than 70 million people globally. CNCP is a serious public health issue which is caused by the lack of awareness about chronic pain management among the general population.

Keywords: pain, sociology, sociological, body

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Authors: Z. M. Biyasheva, M. Zh. Tleubergenova, Y. A. Zaripova, A. L. Shakirov, V. V. Dyachkov

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In recent years, interest in ecogenetic and biomedical problems related to the effects on the population of radon and its daughter decay products has increased significantly. Of particular interest is the assessment of the consequence of irradiation at hazardous radon areas, which includes the Almaty region due to the large number of tectonic faults that enhance radon emanation. In connection with the foregoing, the purpose of this work was to study the genetic effects of exposure to supernormal radon doses on the alpha-radiation model. Irradiation does not affect the growth of the cell, but rather its ability to differentiate. In addition, irradiation can lead to somatic mutations, morphoses and modifications. These damages most likely occur from changes in the composition of the substances of the cell. Such changes are epigenetic since they affect the regulatory processes of ontogenesis. Variability in the expression of regulatory genes refers to conditional mutations that modify the formation of signs of intraspecific similarity. Characteristic features of these conditional mutations are the dominant type of their manifestation, phenotypic asymmetry and their instability in the generations. Currently, the terms “morphosis” and “modification” are used to describe epigenetic variability, which are maintained in Drosophila melanogaster cultures using linkaged X- chromosomes, and the mutant X-chromosome is transmitted along the paternal line. In this paper, we investigated the epigenetic effects of alpha particles, whose source in nature is mainly radon and its daughter decay products. In the experiment, an isotope of plutonium-238 (Pu²³⁸), generating radiation with an energy of about 5500 eV, was used as a source of alpha particles. In an experiment in the first generation (F₁), deformities or morphoses were found, which can be called "radiation syndromes" or mutations, the manifestation of which is similar to the pleiotropic action of genes. The proportion of morphoses in the experiment was 1.8%, and in control 0.4%. In this experiment, the morphoses in the flies of the first and second generation looked like black spots, or melanomas on different parts of the imago body; "generalized" melanomas; curled, curved wings; shortened wing; bubble on one wing; absence of one wing, deformation of thorax, interruption and violation of tergite patterns, disruption of distribution of ocular facets and bristles; absence of pigmentation of the second and third legs. Statistical analysis by the Chi-square method showed the reliability of the difference in experiment and control at P ≤ 0.01. On the basis of this, it can be considered that alpha particles, which in the environment are mainly generated by radon and its isotopes, have a mutagenic effect that manifests itself, mainly in the formation of morphoses or deformities.

Keywords: alpha-radiation, genotoxicity, morphoses, radioecology, radon

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Authors: Yevheniia Varyvoda, Douglas Taren

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At the aggregate level, climate variability, the rising number of active violent conflicts, globalization and industrialization of agriculture, the loss in diversity of crop species, the increase in demand for agricultural production, and the adoption of healthy and sustainable dietary patterns are exacerbating factors of food system destabilization. The importance of pseudocereals to fuel and sustain resilient food systems is recognized by leading organizations working to end hunger, particularly for their critical capability to diversify livelihood portfolios and provide plant-sourced healthy nutrition in the face of systemic shocks and stresses. Amaranth, buckwheat, and quinoa are the most promising and used pseudocereals for ensuring food system resilience in the reality of climate change due to their high nutritional profile, good digestibility, palatability, medicinal value, abiotic stress tolerance, pest and disease resistance, rapid growth rate, adaptability to marginal and degraded lands, high genetic variability, low input requirements, and income generation capacity. The study provides the rationale and examples of advancing local and regional food systems' resilience by scaling up the utilization of amaranth, buckwheat, and quinoa along all components of food systems to architect indirect nutrition interventions and climate-smart approaches. Thus, this study aims to explore the drivers for ancient pseudocereal utilization, the potential resilience benefits that can be derived from using them, and the challenges and opportunities for pseudocereal utilization within the food system components. The PSALSAR framework regarding the method for conducting systematic review and meta-analysis for environmental science research was used to answer these research questions. Nevertheless, the utilization of pseudocereals has been slow for a number of reasons, namely the increased production of commercial and major staples such as maize, rice, wheat, soybean, and potato, the displacement due to pressure from imported crops, lack of knowledge about value-adding practices in food supply chain, limited technical knowledge and awareness about nutritional and health benefits, absence of marketing channels and limited access to extension services and information about resilient crops. The success of climate-resilient pathways based on pseudocereal utilization underlines the importance of co-designed activities that use modern technologies, high-value traditional knowledge of underutilized crops, and a strong acknowledgment of cultural norms to increase community-level economic and food system resilience.

Keywords: resilience, pseudocereals, food system, climate change

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Authors: Noury Bakrim

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Translatability is one of Walter Benjamin’s most influential notions, it is somehow representing the philosophy of language and history of what we might call and what we indeed coined as ‘the other German Speaking Modernity’ which could be shaped as a parallel thought form to the Marxian-Hegelian philosophy of history, the one represented by the school of Frankfurt. On the other hand, we should consider the influence of the plural German speaking identity and the Nietzschian and Goethean heritage, this last being focused on a positive will of power: the humanised human being. Having in perspective the benjaminian notion of translatability (Übersetzbarkeit), to be defined as an internal permanent hermeneutical possibility as well as a phenomenological potential of a translation relation, we are in fact touching this very double limit of both historical and linguistic reason. By life component, we mean the changing conditions of genetic and neurolinguistic post-partum functions, to be grasped as an individuation beyond the historical determinism and teleology of an event. It is, so to speak, the retrospective/introspective canettian auto-fiction, the benjaminian crystallization of the language experience in the now-time of writing/transmission. Furthermore, it raises various questioning points when it comes to translatability, they are basically related to psycholinguistic separate poles, the fatherly ladino Spanish and the motherly Vienna German, but relating more in particular to the permanent ontological quest of a world loss/belonging. Another level of this quest would be the status of Veza Canetti-Taubner Calderón, german speaking Author, Canetti’s ‘literary wife’, writer’s love, his inverted logos, protective and yet controversial ‘official private life partner’, the permanence of the jewish experience in the exiled german language. It sheds light on a traumatic relation of an inadequate/possible language facing the reconstruction of an oral life, the unconscious split of the signifier and above all on the frustrating status of writing in Canetti’s work : Using a suffering/suffered written German to save his remembered acquisition of his tongue/mother tongue by saving the vanishing spoken multilingual experience. While Canetti’s only novel ‘Die Blendung’ designates that fictional referential dynamics focusing on the nazi worldless horizon: the figure of Kien is an onomastic signifier, the anti-Canetti figure, the misunderstood legacy of Kant, the system without thought. Our postulate would be the double translatability of his auto-fiction inventing the bios oral signifier basing on the new praxemes created by Canetti’s german as observed in the English, French translations of his memory corpus. We aim at conceptualizing life component and translatability as two major features of a german speaking modernity.

Keywords: translatability, language biography, presentification, bioeme, life Order

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Authors: Shubham Gogri, Lucia Florescu

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Medical diagnosis and radiotherapy treatment planning using Computed Tomography (CT) rely on the quantitative accuracy and quality of the CT images. At the same time, requirements for CT imaging include reducing the radiation dose exposure to patients and minimizing scanning time. A solution to this is the sparse-view CT technique, based on a reduced number of projection views. This, however, introduces a new problem— the incomplete projection data results in lower quality of the reconstructed images. To tackle this issue, deep learning methods have been applied to enhance the quality of the sparse-view CT images. A first approach involved employing Mir-Net, a dedicated deep neural network designed for image enhancement. This showed promise, utilizing an intricate architecture comprising encoder and decoder networks, along with the incorporation of the Charbonnier Loss. However, this approach was computationally demanding. Subsequently, a specialized Generative Adversarial Network (GAN) architecture, rooted in the Pix2Pix framework, was implemented. This GAN framework involves a U-Net-based Generator and a Discriminator based on Convolutional Neural Networks. To bolster the GAN's performance, both Charbonnier and Wasserstein loss functions were introduced, collectively focusing on capturing minute details while ensuring training stability. The integration of the perceptual loss, calculated based on feature vectors extracted from the VGG16 network pretrained on the ImageNet dataset, further enhanced the network's ability to synthesize relevant images. A series of comprehensive experiments with clinical CT data were conducted, exploring various GAN loss functions, including Wasserstein, Charbonnier, and perceptual loss. The outcomes demonstrated significant image quality improvements, confirmed through pertinent metrics such as Peak Signal-to-Noise Ratio (PSNR) and Structural Similarity Index (SSIM) between the corrected images and the ground truth. Furthermore, learning curves and qualitative comparisons added evidence of the enhanced image quality and the network's increased stability, while preserving pixel value intensity. The experiments underscored the potential of deep learning frameworks in enhancing the visual interpretation of CT scans, achieving outcomes with SSIM values close to one and PSNR values reaching up to 76.

Keywords: generative adversarial networks, sparse view computed tomography, CT image correction, Mir-Net

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Authors: Jun Won Kim

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Objective: Theta-phase gamma-amplitude coupling (TGC) was used as a novel evidence-based tool to reflect the dysfunctional cortico-thalamic interaction in patients with schizophrenia. However, to our best knowledge, no studies have reported the diagnostic utility of the TGC in the resting-state electroencephalographic (EEG) of neuroleptic-naive patients with schizophrenia compared to healthy controls. Thus, the purpose of this EEG study was to understand the underlying mechanisms in patients with schizophrenia by comparing the TGC at rest between two groups and to evaluate the diagnostic utility of TGC. Method: The subjects included 90 patients with schizophrenia and 90 healthy controls. All patients were diagnosed with schizophrenia according to the criteria of Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) by two independent psychiatrists using semi-structured clinical interviews. Because patients were either drug-naïve (first episode) or had not been taking psychoactive drugs for one month before the study, we could exclude the influence of medications. Five frequency bands were defined for spectral analyses: delta (1–4 Hz), theta (4–8 Hz), slow alpha (8–10 Hz), fast alpha (10–13.5 Hz), beta (13.5–30 Hz), and gamma (30-80 Hz). The spectral power of the EEG data was calculated with fast Fourier Transformation using the 'spectrogram.m' function of the signal processing toolbox in Matlab. An analysis of covariance (ANCOVA) was performed to compare the TGC results between the groups, which were adjusted using a Bonferroni correction (P < 0.05/19 = 0.0026). Receiver operator characteristic (ROC) analysis was conducted to examine the discriminating ability of the TGC data for schizophrenia diagnosis. Results: The patients with schizophrenia showed a significant increase in the resting-state TGC at all electrodes. The delta, theta, slow alpha, fast alpha, and beta powers showed low accuracies of 62.2%, 58.4%, 56.9%, 60.9%, and 59.0%, respectively, in discriminating the patients with schizophrenia from the healthy controls. The ROC analysis performed on the TGC data generated the most accurate result among the EEG measures, displaying an overall classification accuracy of 92.5%. Conclusion: As TGC includes phase, which contains information about neuronal interactions from the EEG recording, TGC is expected to be useful for understanding the mechanisms the dysfunctional cortico-thalamic interaction in patients with schizophrenia. The resting-state TGC value was increased in the patients with schizophrenia compared to that in the healthy controls and had a higher discriminating ability than the other parameters. These findings may be related to the compensatory hyper-arousal patterns of the dysfunctional default-mode network (DMN) in schizophrenia. Further research exploring the association between TGC and medical or psychiatric conditions that may confound EEG signals will help clarify the potential utility of TGC.

Keywords: quantitative electroencephalography (QEEG), theta-phase gamma-amplitude coupling (TGC), schizophrenia, diagnostic utility

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Authors: Jean Akiana, Digne Merveille Nganga Bouanga, Nardiouf Sjelin Nsana, Wilfrid Sapromet Ngoubili, Chyvanelle Ndous Akiridzo, Vishnou Reize Ampiri, Henri-Joseph Parra, Florence Fenollar, Didier Raoult, Oleg Mediannikov, Cheikh Sadhibou Sokhna

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Schistosoma haematobium schistosomiasis is an endemic disease in which the level of human exposure, incidence, and fatality attributed to it remains, unfortunately, high worldwide. The erection of hydroelectric infrastructures constitute a major factor in the emergence of this disease. In the context of the Republic of the Congo, which considers industrialization and modernization as two essential pillars of development, building the hydroelectric dams of Liouesso (19 Mw) and the feasibility studies of the dams of Chollet (600MW) in the Sangha, of Sounda (1000MW) in Kouilou and Kouembali (150MW) on Lefini is necessary to increase the country's energy capacities. Likewise, the urbanization of former endemic localities should take into account the maintenance of contamination points. However, health impact studies on schistosomiasis epidemiology in general and urinary bilharzia, in particular, have never been carried out in these areas, neither before nor after the erection of those dams. Participants benefited from an investigative questionnaire, urinalysis both by dipstick and urine filtrate examined under a microscope. Assessment of the genetic diversity of schistosoma species populations was considered as well as PCR analysis to confirm the test strip and microscopy tests. 405 participants were registered in five localities. The sampling was made up of a balanced population in terms of male/female ratio, which is around 1. The prevalence rate was 45% (55/123) in Nkayi, 10.40% (11/106) in Loudima, 1 case in Mbomo (West Cuvette), which would probably be imported, zero in Liouesso and Kabo. The highest oviuria (number of eggs per volume of urine) is 150 S. haematobium eggs/10ml in Nkayi, apart from the case of imported Mbomo, imported from Gabon, which has 160 S. haematobium eggs/10ml. The lowest oviuria was 2 S. haematobium eggs/10ml. Prevalence rates are still high in semi-urban areas (Nkayi). As praziquantel treatments are available and effective, it is important to step up mass treatment campaigns in high risk areas already largely initiated by the National Schistosomiasis Control Program. Prevalence rates are still high in semi-urban areas (Nkayi). As praziquantel treatments are available and effective, it is important to step up mass treatment campaigns in high risk areas already largely initiated by the National Schistosomiasis Control Program.

Keywords: Bilharzia, Schistosoma haematobium, oviuria, urbanization, Congo

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Authors: Lakmini Wijesooriya, Vicki Chalker, Jessica Day, Priyantha Perera, N. P. Sunil-Chandra

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M. pneumoniae has been identified as an etiology for exacerbation of asthma (EQA), although viruses play a major role in EOA. M. pneumoniae infection is treated empirically with macrolides, and its antibiotic sensitivity is not detected routinely. Characterization of the organism by genotyping and determination of macrolide resistance is important epidemiologically as it guides the empiric antibiotic treatment. To date, there is no such characterization of M. pneumoniae performed in Sri Lanka. The present study describes the characterization of M. pneumoniae detected from a child with EOA following a screening of 100 children with EOA. Of the hundred children with EOA, M. pneumoniae was identified only in one child by Real-Time polymerase chain reaction (PCR) test for identifying the community-acquired respiratory distress syndrome (CARDS) toxin nucleotide sequences. The M. pneumoniae identified from this patient underwent detection of macrolide resistance via conventional PCR, amplifying and sequencing the region of the 23S rDNA gene that contains single nucleotide polymorphisms that confer resistance. Genotyping of the isolate was performed via nested Multilocus Sequence Typing (MLST) in which eight (8) housekeeping genes (ppa, pgm, gyrB, gmk, glyA, atpA, arcC, and adk) were amplified via nested PCR followed by gene sequencing and analysis. As per MLST analysis, the M. pneumoniae was identified as sequence type 14 (ST14), and no mutations that confer resistance were detected. Resistance to macrolides in M. pneumoniae is an increasing problem globally. Establishing surveillance systems is the key to informing local prescriptions. In the absence of local surveillance data, antibiotics are started empirically. If the relevant microbiological samples are not obtained before antibiotic therapy, as in most occasions in children, the course of antibiotic is completed without a microbiological diagnosis. This happens more frequently in therapy for M. pneumoniae which is treated with a macrolide in most patients. Hence, it is important to understand the macrolide sensitivity of M. pneumoniae in the setting. The M. pneumoniae detected in the present study was macrolide sensitive. Further studies are needed to examine a larger dataset in Sri Lanka to determine macrolide resistance levels to inform the use of macrolides in children with EOA. The MLST type varies in different geographical settings, and it also provides a clue to the existence of macrolide resistance. The present study enhances the database of the global distribution of different genotypes of M. pneumoniae as this is the first such characterization performed with the increased number of samples to determine macrolide resistance level in Sri Lanka. M. pneumoniae detected from a child with exacerbation of asthma in Sri Lanka was characterized as ST14 by MLST and no mutations that confer resistance were detected.

Keywords: mycoplasma pneumoniae, Sri Lanka, characterization, macrolide resistance

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Authors: Ibrahim Umar, Ashiru Rajab, Sumayya Chindo, Emmanuel Olashore

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INTRODUCTION: Kano is the most populous state in Nigeria and one of the two states with the highest TB burden in the country. The state notifies an average of 8,000+ TB cases quarterly and has the highest yearly notification of all the states in Nigeria from 2020 to 2022. The contribution of the state TB program to the National TB notification varies from 9% to 10% quarterly between the first quarter of 2022 and second quarter of 2023. The Kano State TB Situation Room is an innovative platform for timely data collection, collation and analysis for informed decision in health system. During the 2023 second National TB Testing week (NTBTW) Kano TB program aimed at early TB detection, prevention and treatment. The state TB Situation room provided avenue to the state for coordination and surveillance through real time data reporting, review, analysis and use during the NTBTW. OBJECTIVES: To assess the role of innovative information and communication technology platform for real-time TB reporting during second National TB Testing week in Nigeria 2023. To showcase the NTBTW data cascade analysis using TSR as innovative ICT platform. METHODOLOGY: The State TB deployed a real-time virtual dashboard for NTBTW reporting, analysis and feedback. A data room team was set up who received realtime data using google link. Data received was analyzed using power BI analytic tool with statistical alpha level of significance of <0.05. RESULTS: At the end of the week-long activity and using the real-time dashboard with onsite mentorship of the field workers, the state TB program was able to screen a total of 52,054 people were screened for TB from 72,112 individuals eligible for screening (72% screening rate). A total of 9,910 presumptive TB clients were identified and evaluated for TB leading to diagnosis of 445 TB patients with TB (5% yield from presumptives) and placement of 435 TB patients on treatment (98% percentage enrolment). CONCLUSION: The TB Situation Room (TBSR) has been a great asset to Kano State TB Control Program in meeting up with the growing demand for timely data reporting in TB and other global health responses. The use of real time surveillance data during the 2023 NTBTW has in no small measure improved the TB response and feedback in Kano State. Scaling up this intervention to other disease areas, states and nations is a positive step in the right direction towards global TB eradication.

Keywords: tuberculosis (tb), national tb testing week (ntbtw), tb situation rom (tsr), information communication technology (ict)

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Authors: A. Venkatakrishnan, M. Juneja, S. Kapoor

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Background: Gastrointestinal dysfunction is an emerging co morbidity seen in autism and may further strengthen the association between autism and celiac disease. This is supported by increased rates (22-70%) of gastrointestinal symptoms like diarrhea, constipation, abdominal discomfort/pain, and gastrointestinal inflammation in children with the etiology of autism is still elusive. In addition to genetic factors, environmental factors such as toxin exposure, intrauterine exposure to certain teratogenic drugs, are being proposed as possible contributing factors in the etiology of Autism Spectrum Disorders (ASD) in cognizance with reports of increased gut permeability and high rates of gastrointestinal symptoms noted in children with ASD, celiac disease has also been proposed as a possible etiological factor. Despite insufficient evidence regarding the benefit of restricted diets in Autism, GFD has been promoted as an alternative treatment for ASD. This study attempts to discern any correlation between ASD and celiac disease. Objective: This cross sectional study aims to determine the proportion of celiac disease in children with ASD. Methods: Study included 155 participants aged 2-12 yrs, diagnosed as ASD as per DSM-5 attending the child development center at a tertiary care hospital in Northern India. Those on gluten free diet or having other autoimmune conditions were excluded. A detailed Performa was filled which included sociodemographic details, history of gastrointestinal symptoms, anthropometry, systemic examination, and pertinent psychological testing was done using was assessed using Developmental Profile-3(DP-3) for Developmental Quotient, Childhood Autism Rating Scale-2 (CARS-2) for severity of ASD, Vineland Adaptive Behavior Scales (VABS) for adaptive behavior, Child Behavior Checklist (CBCL) for behavioral problems and BAMBI (Brief Autism Mealtime Behavior Scales) for feeding problems. Screening for celiac was done by TTG-IgA levels, and total serum IgA levels were measured to exclude IgA deficiency. Those with positive screen were further planned for HLA typing and endoscopic biopsy. Results: A total of 155 cases were included, out of which 5 had low IgA levels and were hence excluded from the study. The rest 150 children had TTG levels below the ULN and normal total serum IgA level. History of Gastrointestinal symptoms was present in 51 (34%) cases abdominal pain was the most frequent complaint (16.6%), followed by constipation (12.6%). Diarrhea was seen in 8 %. Gastrointestinal symptoms were significantly more common in children with ASD above 5 yrs (p-value 0.006) and those who were verbal (p = 0.000). There was no significant association between socio-demographic factors, anthropometric data, or severity of autism with gastrointestinal symptoms. Conclusion: None of the150 patients with ASD had raised TTG levels; hence no association was found between ASD and celiac disease. There is no justification for routine screening for celiac disease in children with ASD. Further studies are warranted to evaluate association of Non Celiac Gluten Sensitivity with ASD and any role of gluten-free diet in such patients.

Keywords: autism, celiac, gastrointestinal, gluten

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Authors: Preet Shah, Om Shrivastav

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Introduction : In India, Leishmania donovani is the only parasite causing Leishmaniasis. The parasite infects the reticuloendothelial system and is found in the bone marrow, spleen and liver. Treatment of choice is amphotericin-B with sodium stibogluconate being an alternative. Miltefosine is useful in refractory cases. In our case, Leishmaniasis occurred in a person residing in western India (which is quite rare) and it failed to respond to two different drugs (again an uncommon feature) before it finally responded to a third one. Description: A 50 year old lady, a resident of western India, with no history of recent travel, presented with an ulcer on the left side of the nose since 8 months. She was apparently alright 8 months back, when she noticed a small ulcerated lesion on the left ala of the nose which was immediately biopsied. The biopsy revealed amastigotes of Leishmania for which she was administered intra-lesional sodium stibogluconate for 1 month (4 doses every 8 days).Despite this, there was no regression of the ulcer and hence she presented to us for further management. On examination, her vital parameters were normal. Barring an ulcer on the left side of the nose, rest of the examination findings were unremarkable. Complete blood count was normal. Ultrasound abdomen showed hepatomegaly. PET-CT scan showed increased metabolic activity in left ala of nose, hepatosplenomegaly and increased metabolic activity in spleen and bone marrow. Bone marrow biopsy was done which showed hypercellular marrow with erythroid preponderance. Considering a diagnosis of leishmaniasis which had so far been unresponsive to sodium stibogluconate, she was started on liposomal amphotericin-B. At the time of admission, her creatinine level was normal, but it started rising with the administration of liposomal amphotericin-B, hence the dose was reduced. Despite this, creatinine levels did not improve, and she started developing hypokalemia and hypomagnesemia as side effects of the drug, hence further reductions in the dosage were made. Despite a total of 3 weeks of liposomal amphotericin-B, there was no improvement in the ulcer. As had so far failed to respond to sodium stibogluconate and liposomal amphotericin-B, it was decided to start her on miltefosine. She received the miltefosine for a total of 12 weeks. At the end of this duration, there was a marked regression of the cutaneous lesion. Conclusion: Refractoriness to amphotericin-B in leishmaniasis may be seen in up to 5 % cases. Here, an alternative drug such as miltefosine is useful and hence we decided to use it, to which she responded adequately. Furthermore, although leishmaniasis is common in the eastern part of India, it is a relatively unknown entity in the western part of the country with the occurrence being very rare. Because of these 2 reasons, we consider our case to be a unique one.

Keywords: amphotericin-b, leishmaniasis, miltefosine, tropical diseases

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Authors: P. Uma Devi, S. Sujith, K. Rahul, T. S. Dipu, V. Anil Kumar , Vidya Menon

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Introduction: Candida is an important cause of bloodstream infections (BSIs), causing significant mortality and morbidity. The epidemiology of Candida infection is also changing, mainly in relation to the number of episodes caused by species Candida non-albicans. However, in India, the true burden of candidemia is not clear. Thus, this study was conducted to evaluate the clinical characteristics, species distribution, antifungal susceptibility and outcome of candidemia at our hospital. Methodology: Between January 2012 and April 2014, adult patients with at least one positive blood culture for Candida species were identified through the microbiology laboratory database (for each patient only the first episode of candidemia was recorded). Patient data was collected by retrospective chart review of clinical characteristics including demographic data, risk factors; species distribution, resistance to antifungals and survival. Results: A total of 165 episodes of Candida BSI were identified, with 115 episodes occurring in adult patients. Most of the episodes occurred in males (69.6%). Nearly 82.6% patients were between 41 to 80 years and majority of the patients were in the intensive care unit (65.2%) at the time of diagnosis. On admission, 26.1% and 18.3% patients had pneumonia and urinary tract infection, respectively. Majority of the candidemia episodes were found in the general medicine department (23.5%) followed by gastrointestinal surgery (13.9%) and medical oncology & haematology (13%). Risk factors identified were prior hospitalization within one year (83.5%), antibiotic therapy within the last one month (64.3%), indwelling urinary catheter (63.5%), central venous catheter use (59.1%), diabetes mellitus (53%), severe sepsis (45.2%), mechanical ventilation (43.5%) and surgery (36.5%). C. tropicalis (30.4%) was the leading cause of infection followed by C. parapsilosis (28.7%) and C. albicans (13%). Other non-albicans species isolated included C. haemulonii (7.8%), C. glabrata (7%), C. famata (4.3%) and C. krusei (1.7%). Antifungal susceptibility to fluconazole was 87.9% (C. parapsilosis), 100% (C. tropicalis) and 93.3% (C. albicans). Mortality was noted in 51 patients (44.3%). Early mortality (within 7 days) was noted in 32 patients while late mortality (between 7 and 30 days) was noted in 19 patients. Conclusion: In recent years, candidemia has been flourishing in critically ill patients. Comparison of data from our own hospital from 2005 shows a doubling of the incidence. Rapid changes in the rate of infection, potential risk factors, and emergence of non-albicans Candida demand continued surveillance of this serious BSI. High index of suspicion and sensitive diagnostics are essential to improve outcomes in resource limited settings with emergence of non-albicans Candida.

Keywords: antifungal susceptibility, candida albicans, candidemia, non-albicans candida

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Authors: Abi Miller, Eleanor Wilson, Claire Diver

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Background: UK Head and Neck Cancer incidence and prevalence were rising related to better treatment outcomes and changed demographics. More people of working-age now survive Head and Neck Cancer. For individuals, work provides income, purpose, and social connection. For society, work increases economic productivity and reduces welfare spending. In the UK, a cancer diagnosis is classed as a disability and more disabled people leave the workplace than non-disabled people. Limited evidence exists on return-to-work after Head and Neck Cancer, with no UK qualitative studies. Head and Neck Cancer survivors appear to return to work less when compared to other cancer survivors. This study aimed to explore the effects of Head and Neck Cancer disability on survivors’ return-to-work experience. Methodologies: This was an exploratory qualitative study using a critical realist approach to carry out semi-structured one-off interviews with Head and Neck Cancer survivors who had returned to work. Interviews were informed by an interview guide and carried out remotely by Microsoft Teams or telephone. Interviews were transcribed verbatim, pseudonyms allocated, and transcripts anonymized. Data were interpreted using Reflexive Thematic Analysis. Findings: Thirteen Head and Neck Cancer survivors aged between 41 -63 years participated in interviews. Three major themes were derived from the data: changed identity and meaning of work after Head and Neck Cancer, challenging and supportive work experiences and impact of healthcare professionals on return-to-work. Participants described visible physical appearance changes, speech and eating challenges, mental health difficulties and psycho-social shifts following Head and Neck Cancer. These factors affected workplace re-integration, ability to carry out work duties, and work relationships. Most participants experienced challenging work experiences, including stigmatizing workplace interactions and poor communication from managers or colleagues, which further affected participant confidence and mental health. Many participants experienced job change or loss, related both to Head and Neck Cancer and living through a pandemic. A minority of participants experienced strategies like phased return, which supported workplace re-integration. All participants, bar one, wanted conversations with healthcare professionals about return-to-work but perceived these conversations as absent. Conclusion: All participants found returning to work after Head and Neck Cancer to be a challenging experience. This appears to be impacted by participant physical, psychological, and functional disability following Head and Neck Cancer, work interaction and work context.

Keywords: disability, experience, head and neck cancer, qualitative, return-to-work

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Authors: Aparecida De Fatima Dutra, Freddie Avant, Wilma Cordova

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People living with HIV/AIDS (PLWHA) have benefited from advances in treatment. Medical costs are a challenge for some, but the real challenge is the stigma and discrimination PLWHA continue to face, even though the disease has festered for the last four decades. Few studies regarding stigma and discrimination give voice to those affected by these practices. This study provides a voice to PLWHA in Brazil and in the US as to how they perceive stigma and discrimination, as well as services they access. The methodology of this study was designed based on phenomenological research, which is a research that aims to identify what individuals facing the same situation have to share about their experiences. Qualitative research using in- depth interviews was used in order to gather participants’ perceptions about services they access, and stigma and discrimination they experience as PLWHA (hypothesis). The target population was a minority group of 13 Afro-descendant men, mean age of 48.3, residents in East Texas, United States and Salvador, Brazil. Our findings indicate that in both countries, overall, participants have reasonable access to medication and qualified services, except for some specialties, such as dentistry. With regard to stigma and discrimination the majority of participants have not disclosed their diagnosis. They state they prefer not to disclose for fear of being ostracized and rejected. Participants who did reveal their status indicate that stigma and discrimination is a daily occurrence. These experiences tend to occur within their own families, neighborhoods, and in public health agencies where HIV/AIDS is not the focus. Participants who did offer suggestions for social change indicated they would have to reveal their status even if it means being stigmatized and discriminated against. Other factors contributing to this discrimination include skin color and poverty. This study concludes that even after decades since the spread of this epidemic, nothing has changed regarding stigma and discrimination towards PLWHA. Lack of awareness, empathy and education continue to be a major challenge, not only at a local level but across the globe. In conclusion, as documented in previous studies while stigma and discrimination towards this population prevail, negative attitudes will continue to jeopardize all individuals from receiving equal access to prevention, treatment and care. It is crucial to face stigma and discrimination not only as individual experiences, but as social practices that violate and restrict human rights and that as a result, reinforce inequality and social exclusion. Policies should be at the forefront to eliminate the stigma and discrimination PLWHA experience. Health professionals and societies must take a stand in order to promote mindfulness about the negative effect of oppression towards individuals living with HIV/AIDS and the potential global impact of these practices.

Keywords: discrimination, HIV/AIDS, human rights, stigma

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Authors: A. D'Alessandro, F. Ubertini, A. L. Materazzi

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In the field of civil engineering, Structural Health Monitoring is a topic of growing interest. Effective monitoring instruments permit the control of the working conditions of structures and infrastructures, through the identification of behavioral anomalies due to incipient damages, especially in areas of high environmental hazards as earthquakes. While traditional sensors can be applied only in a limited number of points, providing a partial information for a structural diagnosis, novel transducers may allow a diffuse sensing. Thanks to the new tools and materials provided by nanotechnology, new types of multifunctional sensors are developing in the scientific panorama. In particular, cement-matrix composite materials capable of diagnosing their own state of strain and tension, could be originated by the addition of specific conductive nanofillers. Because of the nature of the material they are made of, these new cementitious nano-modified transducers can be inserted within the concrete elements, transforming the same structures in sets of widespread sensors. This paper is aimed at presenting the results of a research about a new self-sensing nanocomposite and about the implementation of smart sensors for Structural Health Monitoring. The developed nanocomposite has been obtained by inserting multi walled carbon nanotubes within a cementitious matrix. The insertion of such conductive carbon nanofillers provides the base material with piezoresistive characteristics and peculiar sensitivity to mechanical modifications. The self-sensing ability is achieved by correlating the variation of the external stress or strain with the variation of some electrical properties, such as the electrical resistance or conductivity. Through the measurement of such electrical characteristics, the performance and the working conditions of an element or a structure can be monitored. Among conductive carbon nanofillers, carbon nanotubes seem to be particularly promising for the realization of self-sensing cement-matrix materials. Some issues related to the nanofiller dispersion or to the influence of the nano-inclusions amount in the cement matrix need to be carefully investigated: the strain sensitivity of the resulting sensors is influenced by such factors. This work analyzes the dispersion of the carbon nanofillers, the physical properties of the fresh dough, the electrical properties of the hardened composites and the sensing properties of the realized sensors. The experimental campaign focuses specifically on their dynamic characterization and their applicability to the monitoring of full-scale elements. The results of the electromechanical tests with both slow varying and dynamic loads show that the developed nanocomposite sensors can be effectively used for the health monitoring of structures.

Keywords: carbon nanotubes, self-sensing nanocomposites, smart cement-matrix sensors, structural health monitoring

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