Search results for: wilson disease

Authors: Hossam N. Alhawatmeh, Areen I. Albustanji

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Hemodialysis negatively affects physical and psychological health. Pain, poor sleep quality, and low self-esteem are highly prevalent among patients with end-stage renal disease (ESRD) who receive hemodialysis, significantly increasing mortality and morbidity of those patients. Mind-body interventions (MBI), such as mindfulness meditation, have been recently gaining popularity that improved pain, sleep quality, and self-esteem in different populations. However, to our best knowledge, its effects on these health problems in patients receiving hemodialysis have not been studied in Jordan. Thus, the purpose of the study was to examine the effect of mindfulness meditation on pain, sleep quality, and self-esteem in patients with ESR receiving hemodialysis in Jordan. An experimental repeated-measures, randomized, parallel control design was conducted on (n =60) end-stage renal disease patients undergoing hemodialysis between March and June 2023 in the dialysis center at a public hospital in Jordan. Participants were randomly assigned to the experimental (n =30) and control groups (n =30) using a simple random assignment method. The experimental group practiced mindfulness meditation for 30 minutes three times per week for five weeks during their hemodialysis treatments. The control group's patients continued to receive hemodialysis treatment as usual for five weeks during hemodialysis sessions. The study variables for both groups were measured at baseline (Time 0), two weeks after intervention (Time 1), and at the end of intervention (Time 3). The numerical rating scale (NRS), the Rosenberg Self-Esteem Scale (RSES-M), and the Pittsburgh Sleep Quality Index (PSQI) were used to measure pain, self-esteem, and sleep quality, respectively. SPSS version 25 was used to analyze the study data. The sample was described by frequency, mean, and standard deviation as an appropriate. The repeated measures analysis of variance (ANOVA) tests were run to test the study hypotheses. The results of repeated measures ANOVA (within-subject) revealed that mindfulness meditation significantly decrease pain by the end of the intervention in the experimental group. Additionally, mindfulness meditation improved sleep quality and self-esteem in the experimental group, and these improvements occurred significantly after two weeks of the intervention and at the end of the intervention. The results of repeated measures ANOVA (within and between-subject) revealed that the experimental group, compared to the control group, experienced lower levels of pain and higher levels of sleep quality and self-esteem over time. In conclusion, the results provided substantial evidence supporting the positive impacts of mindfulness meditation on pain, sleep quality, and self-esteem in patients with ESRD undergoing hemodialysis. These results highlight the potential of mindfulness meditation as an adjunctive therapy in the comprehensive care of this patient population. Incorporating mindfulness meditation into the treatment plan for patients receiving hemodialysis may contribute to improved well-being and overall quality of life.

Keywords: hemodialysis, pain, sleep quality, self-esteem, mindfulness

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Authors: Mustafa M. Donma, Orkide Donma

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Obesity is associated with cardiovascular disease risk factors and metabolic syndrome (MetS). In this study, associations between adipokines and adipokine as well as obesity indices were evaluated. Plasma adipokine levels may exhibit variations according to body adipose tissue mass. Besides, upon consideration of obesity as an inflammatory disease, adipokines may play some roles in this process. The ratios of proinflammatory adipokines to adiponectin may act as highly sensitive indicators of body adipokine status. The aim of the study is to present some adipokine indices, which are thought to be helpful for the evaluation of childhood obesity and also to determine the best discriminators in the diagnosis of MetS. 80 prepubertal children (aged between 6-9.5 years) included in the study were divided into three groups; 30 children with normal weight (NW), 25 morbid obese (MO) children and 25 MO children with MetS. Physical examinations were performed. Written informed consent forms were obtained from the parents. The study protocol was approved by Ethics Committee of Namik Kemal University Medical Faculty. Anthropometric measurements, such as weight, height, waist circumference (C), hip C, head C, neck C were recorded. Values for body mass index (BMI), diagnostic obesity notation model assessment Index-II (D2 index) as well as waist-to-hip, head-to-neck ratios were calculated. Adiponectin, resistin, leptin, chemerin, vaspin, progranulin assays were performed by ELISA. Adipokine-to-adiponectin ratios were obtained. SPSS Version 20 was used for the evaluation of data. p values ≤ 0.05 were accepted as statistically significant. Values of BMI and D2 index, waist-to-hip, head-to-neck ratios did not differ between MO and MetS groups (p ≥ 0.05). Except progranulin (p ≤ 0.01), similar patterns were observed for plasma levels of each adipokine. There was not any difference in vaspin as well as resistin levels between NW and MO groups. Significantly increased leptin-to-adiponectin, chemerin-to-adiponectin and vaspin-to-adiponectin values were noted in MO in comparison with those of NW. The most valuable adipokine index was progranulin-to-adiponectin (p ≤ 0.01). This index was strongly correlated with vaspin-to-adiponectin ratio in all groups (p ≤ 0.05). There was no correlation between vaspin-to-adiponectin and chemerin-to--adiponectin in NW group. However, a correlation existed in MO group (r = 0.486; p ≤ 0.05). Much stronger correlation (r = 0.609; p ≤ 0.01) was observed in MetS group between these two adipokine indices. No correlations were detected between vaspin and progranulin as well as vaspin and chemerin levels. Correlation analyses showed a unique profile confined to MetS children. Adiponectin was found to be correlated with waist-to-hip (r = -0.435; p ≤ 0.05) as well as head-to-neck (r = 0.541; p ≤ 0.05) ratios only in MetS children. In this study, it has been investigated if adipokine indices have priority over adipokine levels. In conclusion, vaspin-to-adiponectin, progranulin-to-adiponectin, chemerin-to-adiponectin along with waist-to-hip and head-to-neck ratios were the optimal combinations. Adiponectin, waist-to-hip, head-to-neck, vaspin-to-adiponectin, chemerin-to-adiponectin ratios had appropriate discriminatory capability for MetS children.

Keywords: adipokine indices, metabolic syndrome, obesity indices, pediatric obesity

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Authors: Ng Liang Shen, Hau Yuan Wen

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Arrhythmia analysis of ECG signal plays a major role in diagnosing most of the cardiac diseases. Therefore, a single arrhythmia detection of an electrocardiographic (ECG) record can determine multiple pattern of various algorithms and match accordingly each ECG beats based on Machine Learning supervised learning. These researchers used different features and classification methods to classify different arrhythmia types. A major problem in these studies is the fact that the symptoms of the disease do not show all the time in the ECG record. Hence, a successful diagnosis might require the manual investigation of several hours of ECG records. The point of this paper presents investigations cardiovascular ailment in Electrocardiogram (ECG) Signals for Cardiac Arrhythmia utilizing examination of ECG irregular wave frames via heart beat as correspond arrhythmia which with Machine Learning Pattern Recognition.

Keywords: electrocardiogram, ECG, classification, machine learning, pattern recognition, detection, QRS

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Authors: Khalid Mohammed Idrees

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Endodontic treatment aims to reverse the disease process and thereby eliminate the associated signs of symptoms. When the treatment itself appears to initiate the onset of pain and /or swelling (endodontic flare-up), the result can be distressing to both the patient and the operator. Patient might even consider postoperative symptoms as a bench mark against which the clinician’s skills are measured. Obviously the treatment with the lowest prevalence of postoperative pain is usually the treatment of choice as long as effectiveness and cost are not compromised. Knowledge of the cause and mechanism behind intra appointment flare-up is of utmost importance for the clinician to properly prevent or manage this undesirable condition. This review lecture will discuss the causative factors of flare-up with special attention to the microorganism role, various modalities of preventive measures would be discussed. Those measures are based on scientific evidence combined with the long clinical experience of the lecturer.

Keywords: endodontic flare-up, causative factors, inflammatory mediators, preventive measures

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Authors: Chunxiao Wu, Dongyun Jiang, Tao Jiang, Luxia Xu, Qian Xu, Meng Zhao, Qin Zhu, Zhigang Guo, Jinlan Pan, Suning Chen

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The stability and evolution of human genetics depends on chromosomes (and chromosome-chromosome interactions). We wish to understand the spatial location of chromosomes in dividing cells in order to understand the relationship between chromosome-chromosome interactions and to further investigate the role of chromosomes and their impact on cell biological behavior. In this study, we explored the relative spatial positional relationships of chromosomes [t (9;22) and t (15;17)] in B-ALL cells by using the three-dimensions DNA in situ fluorescent hybridization (3D-FISH) method. The results showed that chromosomes [t (9;22) and t (15;17)] showed relatively stable spatial relationships. The relative stability of the spatial location of chromosomes in dividing cells may be relevant to disease.

Keywords: chromosome, human genetics, chromosome territory, 3D-FISH

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Authors: Retno Supriyanti, Ays Rahmadian Subhi, Yogi Ramadhani, Haris B. Widodo

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Alzheimer is one type of disease in the elderly that may occur in the world. The severity of the Alzheimer can be measured using a scale called Clinical Dementia Rating (CDR) based on a doctor's diagnosis of the patient's condition. Currently, diagnosis of Alzheimer often uses MRI machine, to know the condition of part of the brain called Hippocampus and Ventricle. MRI image itself consists of 3 slices, namely Coronal, Sagittal and Axial. In this paper, we discussed the measurement of the area of the ventricle especially in the Coronal slice based on the severity level referring to the CDR value. We use Active Contour method to segment the ventricle’s region, therefore that ventricle’s area can be calculated automatically. The results show that this method can be used for further development in the automatic diagnosis of Alzheimer.

Keywords: Alzheimer, CDR, coronal, ventricle, active contour

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Authors: H. Mayton, X. Yan, A. G. Taylor

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Infested tomato seeds were used to investigate the influence of Xanthomonas euvesicatoria on germination and seed to seedling transmission in a controlled environment and greenhouse assays in an effort to develop effective seed treatments and characterize seed borne transmission of bacterial leaf spot of tomato. Bacterial leaf spot of tomato, caused by four distinct Xanthomonas species, X. euvesicatoria, X. gardneri, X. perforans, and X. vesicatoria, is a serious disease worldwide. In the United States, disease prevention is expensive for commercial growers in warm, humid regions of the country, and crop losses can be devastating. In this study, four different infested tomato seed lots were extracted from tomato fruits infected with bacterial leaf spot from a field in New York State in 2017 that had been inoculated with X. euvesicatoria. In addition, vacuum infiltration at 61 kilopascals for 1, 5, 10, and 15 minutes and seed soaking for 5, 10, 15, and 30 minutes with different bacterial concentrations were used to artificially infest seed in the laboratory. For controlled environment assays, infested tomato seeds from the field and laboratory were placed othe n moistened blue blotter in square plastic boxes (10 cm x 10 cm) and incubated at 20/30 ˚C with an 8/16 hour light cycle, respectively. Infested tomato seeds from the field and laboratory were also planted in small plastic trays in soil (peat-lite medium) and placed in the greenhouse with 24/18 ˚C day and night temperatures, respectively, with a 14-hour photoperiod. Seed germination was assessed after eight days in the laboratory and 14 days in the greenhouse. Polymerase chain reaction (PCR) using the hrpB7 primers (RST65 [5’- GTCGTCGTTACGGCAAGGTGGTG-3’] and RST69 [5’-TCGCCCAGCGTCATCAGGCCATC-3’]) was performed to confirm presence or absence of the bacterial pathogen in seed lots collected from the field and in germinating seedlings in all experiments. For infested seed lots from the field, germination was lowest (84%) in the seed lot with the highest level of bacterial infestation (55%) and ranged from 84-98%. No adverse effect on germination was observed from artificially infested seeds for any bacterial concentration and method of infiltration when compared to a non-infested control. Germination in laboratory assays for artificially infested seeds ranged from 82-100%. In controlled environment assays, 2.5 % were PCR positive for the pathogen, and in the greenhouse assays, no infected seedlings were detected. From these experiments, X. euvesicatoria does not appear to adversely influence germination. The lowest rate of germination from field collected seed may be due to contamination with multiple pathogens and saprophytic organisms as no effect of artificial bacterial seed infestation in the laboratory on germination was observed. No evidence of systemic movement from seed to seedling was observed in the greenhouse assays; however, in the controlled environment assays, some seedlings were PCR positive. Additional experiments are underway with green fluorescent protein-expressing isolates to further characterize seed to seedling transmission of the bacterial leaf spot pathogen in tomato.

Keywords: bacterial leaf spot, seed germination, tomato, Xanthomonas euvesicatoria

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Authors: Abdullah Alsayeqh

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The burden of foodborne diseases in Saudi Arabia is currently unknown. The objective of this study was to identify risk factors associated with these diseases among women in Riyadh. A cross-sectional study was carried out from March to July, 2013 where participants’ responses indicated that they were at risk of these diseases through improper food-holding temperature (45.28%), inadequate cooking (35.47%), cross-contamination (32.23%), and food from unsafe sources (22.39%). The claimed food safety knowledge by 22.04% of participants was not evidenced by their reported behaviors (p > 0.05). This is the first study to identify the gap in food safety knowledge among women in Riyadh which needs to be addressed by the concerned authorities in the country by engaging women more effectively in food safety educational campaigns.

Keywords: foodborne diseases, risk factors, knowledge, women, Saudi Arabia

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Authors: Sundaresan Soundararajan, George Ezekiel Silvananthan, Chor Ngee Tan

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Introduction: Transforaminal Interbody Fusion (TLIF) has been adopted for many decades now, however, XLIF, still in relative infancy, has grown to be accepted as a new Minimally Invasive Surgery (MIS) option. There is a paucity of reports directly comparing lateral approach surgery to other MIS options such as TLIF in the treatment of lumbar degenerative disc diseases. Aims/Objectives: The objective of this study was to compare the efficacy and clinical outcomes between Minimally Invasive Transforaminal Interbody Fusion (TLIF) and Minimally Invasive Lateral Interbody Fusion (XLIF) in the treatment of patients with degenerative disc disease of the lumbar spine. Methods: A single center, retrospective cohort study involving a total of 38 patients undergoing surgical intervention between 2010 and 2013 for degenerative disc disease of lumbar spine at single L4/L5 level. 18 patients were treated with MIS TLIF, and 20 patients were treated with XLIF. Results: The XLIF group showed shorter duration of surgery compared to the TLIF group (176 mins vs. 208.3 mins, P = 0.03). Length of hospital stay was also significantly shorter in XLIF group (5.9 days vs. 9 days, p = 0.03). Intraoperative blood loss was favouring XLIF as 85% patients had blood loss less than 100cc compared to 58% in the TLIF group (P = 0.03). Radiologically, disc height was significantly improved post operatively in the XLIF group compared to the TLIF group (0.56mm vs. 0.39mm, P = 0.01). Foraminal height increment was also higher in the XLIF group (0.58mm vs. 0.45mm , P = 0.06). Clinically, back pain and leg pain improved in 85% of patients in the XLIF group and 78% in the TLIF group. Post op hip flexion weakness was more common in the XLIF group (40%) than in the TLIF group (0%). However, this weakness resolved within 6 months post operatively. There was one case of dural tear and surgical site infection in the TLIF group respectively and none in the XLIF group. Visual Analog Scale (VAS) score 6 months post operatively showed comparable reduction in both groups. TLIF group had Owsterty Disability Index (ODI) improvement on 67% while XLIF group showed improvement of 70% of its patients. Conclusions: Lateral approach surgery shows comparable clinical outcomes in resolution of back pain and radiculopathy to conventional MIS techniques such as TLIF. With significantly shorter duration of surgical time, minimal blood loss and shorter hospital stay, XLIF seems to be a reasonable MIS option compared to other MIS techniques in treating degenerative lumbar disc diseases.

Keywords: extreme lateral interbody fusion, lateral approach, minimally invasive, XLIF

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Authors: Champika Amarasinghe

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Introduction: Covid 19 pandemic was badly hit to the Sri Lankan economy during the year 2021. More than 65% of the Sri Lankan work force is engaged with small and medium scale businesses which no doubt that they had to struggle for their survival and business continuity during the pandemic. Objective: To assess the association of adherence to the new norms during the Covid 19 pandemic and maintenance of healthy working environmental conditions for business continuity. A cross sectional study was carried out to assess the OSH status and adequacy of Covid 19 preventive strategies among the 200 SME’S in selected two districts in Sri Lanka. These two districts were selected considering the highest availability of SME’s. Sample size was calculated, and probability propionate to size was used to select the SME’s which were registered with the small and medium scale development authority. An interviewer administrated questionnaire was used to collect the data, and OSH risk assessment was carried out by a team of experts to assess the OSH status in these industries. Results: According to the findings, more than 90% of the employees in these industries had a moderate awareness related to COVID 19 disease and preventive strategies such as the importance of Mask use, hand sainting practices, and distance maintenance, but the only forty percent of them were adhered to implementation of these practices. Furthermore, only thirty five percent of the employees and employers in these SME’s new the reasons behind the new norms, which may be the reason for reluctance to implement these strategies and reluctance to adhering to the new norms in this sector. The OSH risk assessment findings revealed that the working environmental organization while maintaining the distance between two employees was poor due to the inadequacy of space in these entities. More than fifty five percent of the SME’s had proper ventilation and lighting facilities. More than eighty five percent of these SME’s had poor electrical safety measures. Furthermore, eighty two percent of them had not maintained fire safety measures. Eighty five percent of them were exposed to heigh noise levels and chemicals where they were not using any personal protectives nor any other engineering controls were not imposed. Floor conditions were poor, and they were not maintaining the occupational accident nor occupational disease diseases. Conclusions: Based on the findings, proper awareness sessions were carried out by NIOSH. Six physical training sessions and continues online trainings were carried out to overcome these issues, which made a drastic change in their working environments and ended up with hundred percent implementation of the Covid 19 preventive strategies, which intern improved the worker participation in the businesses. Reduced absentees and improved business opportunities, and continued their businesses without any interruption during the third episode of Covid 19 in Sri Lanka.

Keywords: working environment, Covid 19, occupational diseases, occupational accidents

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Authors: Barbra Bhebhe, Melvyn Quan

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A serological survey was done to detect antibodies against Shuni virus (SHUV) from cattle in Western Kenya. In Kenya the disease status of SHUV in cattle has never been established. It is a zoonotic virus and even though studies have been carried out as early as the 1960s, little research has been published and SHUV is still not a well-recognised Orthobunyavirus. One hundred serum samples were collected from healthy cattle in Kenya and tested for antibodies against SHUV by a serum neutralization assay. All antibody titre values were greater than 1:160, with most of the samples greater than 1:320. Of the samples tested, 87 % had titres greater than 1:320, 12% had a titre of 1:320 and 2% had a titre of 1:160. Samples were classified as positive if the antibody titre was ≥ 1:10 and negative if < 1:10. This study suggests that cattle are exposed commonly to SHUV, which may be endemic in Kenya.

Keywords: Shuni virus, Orthobunyavuruses, serum neutralization test, cell-culture

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Authors: Mateusz Bilski, Jakub Klas, Emilia Kowalczyk, Sylwia Koziej, Katarzyna Kulszo, Ludmiła Grzybowska- Szatkowska

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Background: Liver metastases are a common complication of primary solid tumors and sig-nificantly reduce patient survival. In the era of increasing diagnosis of oligometastatic disease and oligoprogression, methods of local treatment of metastases, i.e. MDT, are becoming more important. Implementation of such treatment can be considered for liver metastases, which are a common complication of primary solid tumors and significantly reduce patient survival. To date, the mainstay of treatment for oligometastatic disease has been surgical resection, but not all patients qualify for the procedure. As an alternative to surgical resection, radiotherapy techniques have become available, including stereotactic body radiation therapy (SBRT) or high-dose interstitial brachytherapy (iBT). iBT is an invasive method that emits very high doses of radiation from the inside of the tumor to the outside. This technique provides better tumor coverage than SBRT while having little impact on surrounding healthy tissue and elim-inates some concerns involving respiratory motion. Methods: We conducted a systematic re-view of the scientific literature on the use of brachytherapy in the treatment of liver metasta-ses from 2018 - 2023 using PubMed and ResearchGate browsers according to PRISMA rules. Results: From 111 articles, 18 publications containing information on 729 patients with liver metastases were selected. iBT has been shown to provide high rates of tumor control. Among 14 patients with 54 unresectable RCC liver metastases, after iBT LTC was 92.6% during a median follow-up of 10.2 months, PFS was 3.4 months. In analysis of 167 patients after treatment with a single fractional dose of 15-25 Gy with brachytherapy at 6- and 12-month follow-up, LRFS rates of 88,4-88.7% and 70.7 - 71,5%, PFS of 78.1 and 53.8%, and OS of 92.3 - 96.7% and 76,3% - 79.6%, respectively, were achieved. No serious complications were observed in all patients. Distant intrahepatic progression occurred later in patients with unre-sectable liver metastases after brachytherapy (PFS: 19.80 months) than in HCC patients (PFS: 13.50 months). A significant difference in LRFS between CRC patients (84.1% vs. 50.6%) and other histologies (92.4% vs. 92.4%) was noted, suggesting a higher treatment dose is necessary for CRC patients. The average target dose for metastatic colorectal cancer was 40 - 60 Gy (compared to 100 - 250 Gy for HCC). To better assess sensitivity to therapy and pre-dict side effects, it has been suggested that humoral mediators be evaluated. It was also shown that baseline levels of TNF-α, MCP-1 and VEGF, as well as NGF and CX3CL corre-lated with both tumor volume and radiation-induced liver damage, one of the most serious complications of iBT, indicating their potential role as biomarkers of therapy outcome. Con-clusions: The use of brachytherapy methods in the treatment of liver metastases of various cancers appears to be an interesting and relatively safe therapeutic method alternative to sur-gery. An important challenge remains the selection of an appropriate brachytherapy method and radiation dose for the corresponding initial tumor type from which the metastasis origi-nated.

Keywords: liver metastases, brachytherapy, CT-HDRBT, iBT

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Authors: M. Akoz, O. B. Citil, I. Aydin

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Colostrum secreted by the mammary glands after birth in the early days, a high proportion of fat, protein and ash containing a secretion containing low amounts of casein and lactose. Especially immunoglobulins contain high proportions. Maternal immunoglobulins own immune system to protect the newborn against neonatal disease until development are very important matter. However, colostrum is transferred to the offspring due to placental barrier in ruminants. Immunoglobulins are absorbed through the intestinal epithelium but absorption can vary under the influence of some factors. These factors are among the priority ones taking colostrum first time, amount, concentration, the metabolic status of the newborn. intestinal absorption of immunoglobulins occurs over the first 24 h high. Absorption from the gut after nine hours, 50% after 24 hours was only 11%. On the other hand pup's digestive system degrade the enzymes after 24 hours immunoglobulins. Bovine colostrum in the composition while basic immune IgG, IgA and IgM are also available. Total IgG in colostrum of ruminants, while in other species is a greater amount in blood serum.

Keywords: immunoglobulin, ruminants, colostrum, immune system

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Authors: Remy Mpulumba Badiambile, Paul Musa Obadia, Malick Useni Mutayo, Jeef Numbi Mukanya, Patient Nkulu Banza, Tony Kayembe Kitenge, Erik Smolders, Jean-François Picron, Vincent Haufroid, Célestin Banza Lubaba Nkulu, Benoit Nemery

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Background: In July 2021, the Tshikapa river became heavily polluted by mining wastes from a diamond mine in neighboring Angola, leading to massive killing of fish, as well as disease and even deaths among residents living along the Tshikapa and Kasai rivers, a major contributory of the Congo river. The exact nature of the pollutants was unknown. Methods: In a cross-sectional study conducted in the city of Tshikapa in August 2021, we enrolled by opportunistic sampling 65 residents (11 children < 16y) living alongside the polluted rivers and 65 control residents (5 children) living alongside a non-affected portion of the Kasai river (upstream from the Tshikapa-Kasai confluence). We administered a questionnaire and obtained spot urine samples for measurements of thiocyanate (a metabolite of cyanide) and 26 trace metals (by ICP-MS). Metals (and pH) were also measured in samples of river water. Results: Participants from both groups consumed river water. In the area affected by the pollution, most participants had eaten dead fish. Prevalences of reported health symptoms were higher in the exposed group than among controls: skin rashes (52% vs 0%), diarrhea (40% vs 8%), abdominal pain (8% vs 3%), nausea (3% vs 0%). In polluted water, concentrations [median (range)] were only higher for nickel [(2.2(1.4–3.5)µg/L] and uranium [78(71–91)ng/L] than in non-polluted water [0.8(0.6–1.9)µg/L; 9(7–19)ng/L]. In urine, concentrations [µg/g creatinine, median(IQR)] were significantly higher in the exposed group than in controls for lithium [19.5(12.4–27.3) vs 6.9(5.9–12.1)], thallium [0.41(0.31–0.57) vs 0.19(0.16–0.39)], and uranium [0.026(0.013–0.037)] vs 0.012(0.006–0.024)]. Other elements did not differ between the groups, but levels were higher than reference values for several metals (including manganese, cobalt, nickel, and lead). Urinary thiocyanate concentrations did not differ. Conclusion: This study, after an ecological disaster in the DRC, has documented contamination of river water by nickel and uranium and high urinary levels of some trace metals among affected riverine populations. However, the exact cause of the massive fish kill and disease among residents remains elusive. The capacity to rapidly investigate toxic pollution events must be increased in the area.

Keywords: metal contaminants, river water and human urine, pollution by mining wastes, DR Congo

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Authors: M. Djekoun, H. Berrebah, M. R. Djebar

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Fusarium wilt attacks the plants of major economic interest including wheat. This disease causes many problems for farmers and economic loss resulting are often very heavy. Chemical control is currently one of the most effective ways to fight against these diseases. In this study, the efficacy of three fungicides (tebuconazole, thiram and fludioxonil - difenoconazole mixture) was tested, in vitro, on the phytopathogenic Fusarium sp. isolated from seeds of wheat. The active ingredients were tested at different concentrations: 0.06, 1.39, 2.79, 5.58, and 11.16 mg/l for tebuconazole, 0.035, 0.052, 0.105, 0.21, and 0.42 mg/l for thiram and finally, for the mixture fludioxonil- difenoconazole 4 concentrations were tested : 0.05, 0.1, 0.5, and 1 mg/l. Toxicity responses were expressed as the effective concentration, which inhibits mycelial growth by 50%, (EC50). Of the three selected fungicides, thirame proved to be the most effective with EC50 value of the order of 0,15 mg/l followed by the mixture of fludioxonil- difenoconazole with 0,27 mg/l and finally tebuconazole with a value of 3.79 mg/l.

Keywords: Fusarium sp, thiram, tebuconazole, fludioxonil, difenoconazole, EC50

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Authors: Catarina Bento, Ana Carolina Gonçalves, Fábio Jesus, Luís Rodrigues Silva

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Increasing evidence suggests that a diet rich in fruits and vegetables plays important roles in the prevention of chronic diseases, such as heart disease, cancer, stroke, diabetes, Alzheimer’s disease, among others. Fruits and vegetables gained prominence due their richness in bioactive compounds, being the focus of many studies due to their biological properties acting as health promoters. Prunus avium Linnaeus (L.), commonly known as sweet cherry has been the centre of attention due to its health benefits, and has been highly studied. In Portugal, most of the cherry production comes from the Fundão region. The Saco is one of the most important cultivar produced in this region, attributed with geographical protection. In this work, we prepared 3 extracts through solid-phase extraction (SPE): a whole extract, fraction I (non-coloured phenolics) and fraction II (coloured phenolics). The three extracts were used to determine the phenolic profile of Saco cultivar by liquid chromatography with diode array detection (LC-DAD) technique. This was followed by the evaluation of their biological potential, testing the extracts’ capacity to scavenge free-radicals (DPPH•, nitric oxide (•NO) and superoxide radical (O2●-)) and to inhibit α-glucosidase enzyme of all extracts. Additionally, we evaluated, for the first time, the protective effects against peroxyl radical (ROO•)-induced hemoglobin oxidation and hemolysis in human erythrocytes. A total of 16 non-coloured phenolics were detected, 3-O-caffeoylquinic and ρ-coumaroylquinic acids were the main ones, and 6 anthocyanins were found, among which cyanidin-3-O-rutinoside represented the majority. In respect to antioxidant activity, Saco showed great antioxidant potential in a concentration-dependent manner, demonstrated through the DPPH•,•NO and O2●-radicals, and greater ability to inhibit the α-glucosidase enzyme in comparison to the regular drug acarbose used to treat diabetes. Additionally, Saco proved to be effective to protect erythrocytes against oxidative damage in a concentration-dependent manner against hemoglobin oxidation and hemolysis. Our work demonstrated that Saco cultivar is an excellent source of phenolic compounds which are natural antioxidants that easily capture reactive species, such as ROO• before they can attack the erythrocytes’ membrane. In a general way, the whole extract showed the best efficiency, most likely due to a synergetic interaction between the different compounds. Finally, comparing the two separate fractions, the coloured fraction showed the most activity in all the assays, proving to be the biggest contributor of Saco cherries’ biological activity.

Keywords: biological potential, coloured phenolics, non-coloured phenolics, sweet cherry

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Authors: Hadiseh Hosamirudsari, Farhad Afsarikordehmahin, Pooria Sekhavatfar

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Concomitant cortical blindness and deafness that follow varicella zoster virus (VZV) infection is rare. We describe a case of ophthalmic zoster that caused cortical blindness and deafness after central nervous system (CNS) involvement. A 42-year old, HIV infected woman has developed progressive blurry vision and deafness, 4 weeks after ophthalmic zoster. A physical examination and positive VZV polymerase chain reaction (PCR) of cerebrospinal fluid (CSF) suggested VZV encephalitis. Complication of VZV encephalitis is considered as the cause of blindness and deafness. In neurological deficit patient especially with a history of herpes zoster, VZV infection should be regarded as the responsible agent in inflammatory disorders of nervous system. The immunocompromised state of patient (including HIV) is as important an agent as VZV infection in developing the disease.

Keywords: blindness, deafness, hiv, VZV encephalitis

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Authors: Masoud Baghalian, Musa Arshad

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In order to investigate the effect of foliar application of calcium chloride on the resistance of fruits such as Red and Golden Lebanese apple varieties to blue mold, a split plot experiment in time and space, based on accidental blocks, with three replications under foliar application were done (Control, one in a thousand, two in thousands) and the results of the variance analysis showed that there is a significant difference between the levels of foliar and variety at 5% level and between time, there is significant difference in interaction of variety × time and three way interaction of foliar×variety×time, at 1% level. The highest resistance to the blue mold disease in foliar application was observed at two in thousands calcium (calcium chloride) level.

Keywords: apple, blue mold, foliar calcium, resistance

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Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

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Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

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Authors: Marcela De Oliveira, Marina P. Da Silva, Fernando C. G. Da Rocha, Jorge M. Santos, Jaime S. Cardoso, Paulo N. Lisboa-Filho

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Multiple Sclerosis (MS) is an immune-mediated disease of the central nervous system characterized by neurodegeneration, inflammation, demyelination, and axonal loss. Magnetic resonance imaging (MRI), due to the richness in the information details provided, is the gold standard exam for diagnosis and follow-up of neurodegenerative diseases, such as MS. Brain atrophy, the gradual loss of brain volume, is quite extensive in multiple sclerosis, nearly 0.5-1.35% per year, far off the limits of normal aging. Thus, the brain volume quantification becomes an essential task for future analysis of the occurrence atrophy. The analysis of MRI has become a tedious and complex task for clinicians, who have to manually extract important information. This manual analysis is prone to errors and is time consuming due to various intra- and inter-operator variability. Nowadays, computerized methods for MRI segmentation have been extensively used to assist doctors in quantitative analyzes for disease diagnosis and monitoring. Thus, the purpose of this work was to evaluate the brain volume in MRI of MS patients. We used MRI scans with 30 slices of the five patients diagnosed with multiple sclerosis according to the McDonald criteria. The computational methods for the analysis of images were carried out in two steps: segmentation of the brain and brain volume quantification. The first image processing step was to perform brain extraction by skull stripping from the original image. In the skull stripper for MRI images of the brain, the algorithm registers a grayscale atlas image to the grayscale patient image. The associated brain mask is propagated using the registration transformation. Then this mask is eroded and used for a refined brain extraction based on level-sets (edge of the brain-skull border with dedicated expansion, curvature, and advection terms). In the second step, the brain volume quantification was performed by counting the voxels belonging to the segmentation mask and converted in cc. We observed an average brain volume of 1469.5 cc. We concluded that the automatic method applied in this work can be used for the brain extraction process and brain volume quantification in MRI. The development and use of computer programs can contribute to assist health professionals in the diagnosis and monitoring of patients with neurodegenerative diseases. In future works, we expect to implement more automated methods for the assessment of cerebral atrophy and brain lesions quantification, including machine-learning approaches. Acknowledgements: This work was supported by a grant from Brazilian agency Fundação de Amparo à Pesquisa do Estado de São Paulo (number 2019/16362-5).

Keywords: brain volume, magnetic resonance imaging, multiple sclerosis, skull stripper

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Authors: Endrik Mifta Shaiful, Firman Riyudha

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Acquired Immunodeficiency Syndrome (AIDS) is one of the world's deadliest diseases caused by the Human Immunodeficiency Virus (HIV) that infects white blood cells and cause a decline in the immune system. AIDS quickly became a world epidemic disease that affects almost all countries. Therefore, mathematical modeling approach to the spread of HIV and AIDS is needed to anticipate the spread of HIV and AIDS which are widespread. The purpose of this study is to determine the parameter estimation on mathematical models of HIV transmission and AIDS using cumulative data of people with HIV and AIDS each year in Indonesia. In this model, there are parameters of r ∈ [0,1) which is the effectiveness of the treatment in patients with HIV. If the value of r is close to 1, the number of people with HIV and AIDS will decline toward zero. The estimation results indicate when the value of r is close to unity, there will be a significant decline in HIV patients, whereas in AIDS patients constantly decreases towards zero.

Keywords: HIV, AIDS, parameter estimation, mathematical models

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Authors: Ibrahim Djelloul Berkane

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A survey was conducted to assess the presence of the virus in Citrus tristeza one of the main citrus regions of Algeria, namely the Chlef region, using the technique of Direct Tissue Print Immunoprinting Assay (DTBIA) and the Double Sandwich ELISA antibodies. A nursery citrus, lumber yards, and commercial orchards, which are the main varieties cultivated citrus were subjected to samples collected samples for laboratory analysis. 0.91% of the plants tested orchards were infected with CTV, while no positive case was detected at the nursery the yard, however, it is reported that an alarming rate of 10,5% of orchards tested at the common Chettia were infected with tristeza virus. The investigation was launched to identify the vector species tristeza revealed the presence of a vector is important Aphis gossypii.

Keywords: aphis, chlef, citrus, DAS-ELISA, DTBIA, tristeza

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Authors: M. Djekoun, H. Berrebah, M. R. Djebar

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Fusarium wilt is destructive disease of cereal crops with small grains. It affects yields but also the quality of the crop and economic losses arising are often very heavy. Chemical control is currently one of the most effective ways to fight against these diseases. In this study, the efficacy of three fungicides (tebuconazole, thiram, and fludioxonil-difenoconazole mixture) was tested. In vitro, on the phytopathogenic Fusarium spp. isolated from seeds of wheat. The active ingredients were tested at different concentrations: 0.06, 1.39, 2.79, 5.58, and 11.16 mg/l for tebuconazole, 0.035, 0.052, 0.105, 0.21, and 0.42 mg/l for thiram and finally, for the mixture fludioxonil-difenoconazole 4 concentrations were tested: 0.05, 0.1, 0.5 and 1 mg/l. Toxicity responses were expressed as effective concentration, which inhibits mycelial growth by 50%, (EC50). Of the three selected fungicides, thirame proved to be the most effective with EC50 value of the order of 0,15 mg/l followed by the mixture of fludioxonil-difenoconazole with 0,27mg/l and finally tebuconazole with a value of 3.79 mg/l.

Keywords: Fusarium spp., thiram, tebuconazole, fludioxonil, difenoconazole, percentage of inhibition, EC50

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Authors: Pablo Reche

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Since 1980’s aquaculture has become the biggest economic activity in southern Chile, being Salmo salar and Oncorhynchus mykiss the main finfish species. High fish density makes both species prone to contract diseases, what drives the industry to big losses, affecting greatly the local economy. Three are the most concerning infective agents, the infectious salmon anemia virus (ISAv), the bacteria Piscirickettsia salmonis and the copepod Caligus rogercresseyi. To regulate the industry the government arranged the salmon farms within management areas named as barrios, which coordinate the fallowing periods and antibiotics treatments of their salmon farms. In turn, barrios are gathered into larger management areas, named as macrozonas whose purpose is to minimize the risk of disease transmission between them and to enclose the outbreaks within their boundaries. However, disease outbreaks still happen and transmission to neighbor sites enlarges the initial event. Salmon disease agents are mostly transported passively by local currents. Thus, to understand how transmission occurs it must be firstly studied the physical environment. In Chile, salmon farming takes place in the inner seas of the southernmost regions of western Patagonia, between 41.5ºS-55ºS. This coastal marine system is characterised by western winds, latitudinally modulated by the position of the South-Eats Pacific high-pressure centre, high precipitation rates and freshwater inflows from the numerous glaciers (including the largest ice cap out of Antarctic and Greenland). All of these forcings meet in a complex bathymetry and coastline system - deep fjords, shallow sills, narrow straits, channels, archipelagos, inlets, and isolated inner seas- driving an estuarine circulation (fast outflows westwards on surface and slow deeper inflows eastwards). Such a complex system is modelled on the numerical model MIKE3, upon whose 3D current fields particle-track-biological models (one for each infective agent) are decoupled. Each agent biology is parameterized by functions for maturation and mortality (reproduction not included). Such parameterizations are depending upon environmental factors, like temperature and salinity, so their lifespan will depend upon the environmental conditions those virtual agents encounter on their way while passively transported. CLIC (Connectivity-Langrangian–IFOP-Chile) is a service platform that supports the graphical visualization of the connectivity matrices calculated from the particle trajectories files resultant of the particle-track-biological models. On CLIC users can select, from a high-resolution grid (~1km), the areas the connectivity will be calculated between them. These areas can be barrios and macrozonas. Users also can select what nodes of these areas are allowed to release and scatter particles from, depth and frequency of the initial particle release, climatic scenario (winter/summer) and type of particle (ISAv, Piscirickettsia salmonis, Caligus rogercresseyi plus an option for lifeless particles). Results include probabilities downstream (where the particles go) and upstream (where the particles come from), particle age and vertical distribution, all of them aiming to understand how currently connectivity works to eventually propose a minimum risk zonation for aquaculture purpose. Preliminary results in Chiloe inner sea shows that the risk depends not only upon dynamic conditions but upon barrios location with respect to their neighbors.

Keywords: aquaculture zonation, Caligus rogercresseyi, Chilean Patagonia, coastal oceanography, connectivity, infectious salmon anemia virus, Piscirickettsia salmonis

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Authors: Jurijs Salijevs, Katrina Bolocko

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The integration of artificial intelligence and neural networks has significantly changed full-body imaging and high-resolution 3D mapping systems, and this paper reviews research in these areas. With an emphasis on their use in the early identification of melanoma and other disorders, the goal is to give a wide perspective on the current status and potential future of these medical imaging technologies. Authors also examine methodologies such as machine learning and deep learning, seeking to identify efficient procedures that enhance diagnostic capabilities through the analysis of 3D body scans. This work aims to encourage further research and technological development to harness the full potential of AI in disease diagnosis.

Keywords: artificial intelligence, neural networks, 3D scan, body scan, 3D mapping system, healthcare

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Authors: Gerard Bray, Arya Bahadori, Sachinka Ranasinghe

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Renal cell carcinoma (RCC) is among the top 10 most common cancers worldwide, where metastatic disease carries a poor prognosis. Herein, we present a 74-year-old male presenting with asymptomatic solitary metachronous metastasis to the gall bladder 4 years following nephrectomy for clear cell RCC. Solitary RCC metastasis to the gall bladder following nephrectomy is rarely reported in the literature and brings with it a clinical conundrum of whether surgical resection or systemic therapy should be utilized. In this case, surgical excision with cholecystectomy was employed without systemic therapy. We, therefore, contribute a rare and interesting case that highlights that metastasectomy of a solitary metastasis can improve survival according to current literature.

Keywords: renal cell carcinoma, gall bladder metastasis, solitary metastasectomy, metachronous

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Authors: Nashwa Elyamany

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In visual cultures, namely that of the United States, media representations are such influential and pervasive reflections of societal norms and expectations to the extent that they impact the manner in which both genders view themselves. Health and fitness magazines fall within the realm of visual culture. Since the main goal of communication is to ensure proper dissemination of information in order for the target audience to grasp the intended messages, it becomes imperative that magazine publishers, editors, advertisers and image producers use different modes of communication within their reach to convey messages to their readers and viewers. A rapid waxing flow of multimodality floods popular discourse, particularly health and fitness magazine cover pages. The use of well-crafted cover lines and visual images is imbued with agendas, consumerist ideologies and properties capable of effectively conveying implicit and explicit meaning to potential readers and viewers. In essence, the primary goal of this thesis is to interrogate the multi-semiotic operations and manifestations of hegemonic masculinity and femininity in male and female body culture, particularly on the cover pages of the twin American magazines Men's Health and Women's Health using corpora that spanned from 2011 to the mid of 2016. The researcher explores the semiotic resources that contribute to shaping and legitimizing a new form of postmodern, consumerist, gendered discourse that positions the reader-viewer ideologically. Methodologically, the researcher carries out analysis on the macro and micro levels. On the macro level, the researcher takes on a critical stance to illuminate the ideological nature of the multimodal ensemble of the cover pages, and, on the micro level, seeks to put forward new theoretical and methodological routes through which the semiotic choices well invested on the media texts can be more objectively scrutinized. On the macro level, a 'themes' analysis is initially conducted to isolate the overarching themes that dominate the fitness discourse on the cover pages under study. It is argued that variation in terms of frequencies of such themes is indicative, broadly speaking, of which facets of hegemonic masculinity and femininity are infused in the fitness discourse on the cover pages. On the micro level, this research work encompasses three sub-levels of analysis. The researcher follows an SF-MMDA approach, drawing on a trio of analytical frameworks: Halliday's SFG for the verbal analysis; Kress & van Leeuween's VG for the visual analysis; and CMT in relation to Sperber & Wilson's RT for the pragma-cognitive analysis of multimodal metaphors and metonymies. The data is presented in terms of detailed descriptions in conjunction with frequency tables, ANOVA with alpha=0.05 and MANOVA in the multiple phases of analysis. Insights and findings from this multi-faceted, social-semiotic analysis are interpreted in light of Cultivation Theory, Self-objectification Theory and the literature to date. Implications for future research include the implementation of a multi-dimensional approach whereby linguistic and visual analytical models are deployed with special regards to cultural variation.

Keywords: gender, hegemony, magazine cover page, multimodal discourse analysis, multimodal metaphor, multimodal metonymy, systemic functional grammar, visual grammar

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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: Y. Z. Gad

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Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. The DSD are relatively prevalent in Egypt. In spite of that, the relative rarity of the individual disease types or their molecular pathologies frequently resulted in reporting on single or few cases. This augmented the challenging nature of phenotype-genotype correlation in this disease group and its utilization in the management of such medical emergency. Through critical assessment of the published DSD reports, the current review aims at analyzing the clinical characteristics of the various DSD forms in relation to the underlying molecular pathologies. A systematic literature search was done in Pubmed, using relevant keywords (Egypt versus DSD, genital ambiguity or ambiguous genitalia, the old terms of 'intersex, hermaphroditism and pseudohermaphroditism', and a list of the DSD entities and their related genes). The search yielded 24 reports of molecular data in Egyptian patients presenting with ambiguous genitalia. However, only 21 publications fulfilled the criteria of inclusion of detailed clinical descriptions and definitive molecular diagnoses of individual patients. Curation of the data yielded a total of 53 cases that were ascertained from 40 families. Fifty-one patients present with ambiguous genitalia only while 2 had multiple congenital anomalies. Parental consanguinity was noted in 60% of cases. Sex of rearing at initial presentation was female in 75% and 60% in 46,XY and 46,XX DSD cases, respectively. The external genital phenotype in 2/3 of the 46,XY DSD cases showed moderate undermasculinization [Quigley scores 3 & 4] and 1/3 had severe presentations [scores 5 & 6]. For 46,XX subjects, 1 had severe virilization of the external genitalia while 8 had moderate phenotype. Hormonal data were inconclusive or contradictory to final diagnosis in a forth of cases. Collectively, 31 families [31/40, 77.5%] with 46,XY DSD had molecular defects in the genes, 5 alpha reductase 2 (SRD5A2) [12/31], 17 beta-hydroxysteroid dehydrogenase 3 [8/31], androgen receptor [7/31], Steroidogenic factor 1 [2/31], luteinizing hormone receptor [1/31], and fibroblast growth factor receptor 1 [1/31]. In a multiethnic study, 9 families afflicted with 46,XX DSD due to 11 beta hydroxylase (CYP11B1) deficiency were documented. Two recurrent mutations, G34R and N160D, in SRD5A2 were present, respectively, in 42 and 17% of cases. Similarly, 4 recurrent mutations resulted in 89% of the CYP11B1 presentations. In conclusion, this analysis highlights the importance of autosomal recessive inheritance and inbreeding among DSD presentations, the importance of founder effect in at least 2 disorders, the difficulties in relating the genotype with the indeterminate genital phenotype, the under-reporting of some DSD subtypes, and the notion that the reported mutational profiles among Egyptian DSD cases are relatively different from those reported in other ethnic groups.

Keywords: disorders of sex development, genital ambiguity, mutation, molecular diagnosis, Egypt

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Authors: Jaiden X. Schraut

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Medical Imaging Segmentation of Chest X-rays is used for the purpose of identification and differentiation of lung cancer, pneumonia, COVID-19, and similar respiratory diseases. Widespread application of computer-supported perception methods into the diagnostic pipeline has been demonstrated to increase prognostic accuracy and aid doctors in efficiently treating patients. Modern models attempt the task of segmentation and classification separately and improve diagnostic efficiency; however, to further enhance this process, this paper proposes a multi-output network that follows a U-Net architecture for image segmentation output and features an additional CNN module for auxiliary classification output. The proposed model achieves a final Jaccard Index of .9634 for image segmentation and a final accuracy of .9600 for classification on the COVID-19 radiography database.

Keywords: chest X-ray, deep learning, image segmentation, image classification

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