Search results for: Sonia Ben Hamza

Authors: Hamza Ikhlaq, Stephen Franks

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Background: Polycystic ovarian syndrome (PCOS) is one of the most common endocrine disorders affecting women of reproductive age. The aetiology behind PCOS is poorly understood but influencing ethnic, environmental, and genetic factors have been recognised. However, literature examining the impact of ethnicity is scarce. We hypothesised Body Mass Index (BMI) and ethnicity influence the clinical, metabolic, and biochemical presentations of PCOS, with an interaction between these factors. Methods: A database of 1081 women with PCOS and a control group of 72 women were analysed. BMIs were grouped using the World Health Organisation classification into normal weight, overweight and obese groups. Ethnicities were classified into European, South Asian, and Afro-Caribbean groups. Biochemical and clinical presentations were compared amongst these groups, and statistical analyses were performed to assess significance. Results: This study revealed ethnicity significantly influences biochemical and clinical presentations of PCOS. A greater proportion of South Asian women are impacted by menstrual cycle disturbances and hirsutism than European and Afro-Caribbean women. South Asian and Afro-Caribbean women show greater measures of insulin resistance and weight gain when compared to their European peers. Women with increased BMI are shown to have an increased prevalence of PCOS phenotypes alongside increased levels of insulin resistance and testosterone. Furthermore, significantly different relationships between the waist-hip ratio and measures of insulin and glucose control for Afro-Caribbean women were identified compared to other ethnic groups. Conclusions: The findings of this study show ethnicity significantly influence the phenotypic and biochemical presentations of PCOS, with an interaction between body habitus and ethnicity found. Furthermore, we provide further data on the influences of BMI on the manifestations of PCOS. Therefore, we highlight the need to consider these factors when reviewing diagnostic criteria and delivering clinical care for these groups.

Keywords: PCOS, ethnicity, BMI, clinical

Procedia PDF Downloads 80

Authors: Noreen Noreen, Aamir Ijaz, Hamza Akhtar

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Background: Screening plays a major role to detect chromosomal abnormalities, Down syndrome, neural tube defects and other inborn diseases of the newborn. Serum biomarkers in the second trimester are useful in determining risk of most common chromosomal anomalies; these test include Alpha-fetoprotein (AFP), Human chorionic gonadotropin (hCG), Unconjugated Oestriol (UEȝ)and inhibin-A. Quadruple biomarkers are worth test in diagnosing the congenital pathology during pregnancy, these procedures does not form a part of routine health care of pregnant women in Pakistan, so the median value is lacking for population in Pakistan. Objective: To determine median values of biochemical maternal serum markers in local population during second trimester maternal screening. Study settings: Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology (AFIP) Rawalpindi. Methods: Cross-Sectional study for estimation of reference values. Non-probability consecutive sampling, 155 healthy pregnant women, of 30-40 years of age, will be included. As non-parametric statistics will be used, the minimum sample size is 120. Result: Total 155 women were enrolled into this study. The age of all women enrolled ranged from 30 to39 yrs. Among them, 39 per cent of women were less than 34 years. Mean maternal age 33.46±2.35 SD and maternal body weight were 54.98±2.88. Median value of quadruple markers calculated from 15-18th week of gestation that will be used for calculation of MOM for screening of trisomy21 in this gestational age. Median value at 15 week of gestation were observed hCG 36650 mIU/ml, AFP 23.3 IU/ml, UEȝ 3.5 nmol/L, InhibinA 198 ng/L, at 16 week of gestation hCG 29050 mIU/ml, AFP 35.4 IU/ml, UEȝ 4.1 nmol/L, InhibinA 179 ng/L, at 17 week of gestation hCG 28450 mIU/ml, AFP 36.0 IU/ml, UEȝ 6.7 nmol/L, InhibinA 176 ng/L and at 18 week of gestation hCG 25200 mIU/ml, AFP 38.2 IU/ml, UEȝ 8.2 nmol/L, InhibinA 190 ng/L respectively.All the comparisons were significant (p-Value <0.005) with 95% confidence Interval (CI) and level of significance of study set by going through literature and set at 5%. Conclusion: The median values for these four biomarkers in Pakistani pregnant women can be used to calculate MoM.

Keywords: screening, down syndrome, quadruple test, second trimester, serum biomarkers

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Authors: Hamza A. Pantami, Khozizah Shaari, Intan S. Ismail, Chong C. Min

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Introduction: Tilapia is the second-highest harvested freshwater fish species in Malaysia, available in almost all fish farms and markets. Unfortunately, tilapia culture in Malaysia is highly affected by Aeromonas hydrophila and Streptococcus agalactiae, which affect the production rate and consequently pose a direct negative economic impact. Reliance on drugs to control or reduce bacterial infections has been led to contamination of water bodies and development of drug resistance, as well as gave rise to toxicity issues in downstream fish products. Resorting to vaccines have helped curb the problem to a certain extent, but a more effective solution is still required. Using microalgae-based feed to enhance the fish immunity against bacterial infection offers a promising alternative. Objectives: This study aims to evaluate the efficacy of Chlorella vulgaris at lower percentage incorporation in feeds for an immune boost of tilapia in a shorter time. Methods: The study was in two phases. The safety concentration studies at 500 mg/kg-1 and the administration of cultured C. vulgaris biomass via incorporation into fish feed for five different groups in three weeks. Group 1 was the control (0% incorporation), whereas group 2, 3, 4 and 5 received 0.625%, 1.25%, 2.5% and 5% incorporation respectively. The parameters evaluated were the blood profile, serum lysozyme activity (SLA), serum bactericidal activity (SBA), phagocytosis activity (PA), respiratory burst activity (RBA), and lymphoproliferation activity (LPA). The data were analyzed via ANOVA using SPSS (version 16). Further testing was done using Tukey’s test. All tests were performed at the 95% confidence interval (p < 0.05). Results: There were no toxic signs in tilapia fish at 500 mg/kg-1. Treated groups showed significantly better immune parameters compared to the control group (p < 0.05). Conclusions: C. vulgaris crude biomass in a fish meal at a lower incorporation level of 5% can increase specific and non-specific immunity in tilapia fish in a shorter time duration.

Keywords: Chlorella vulgaris, hematology profile, immune boost, lymphoproliferation

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Authors: Sonia Mahajan Dinesh, Anant Dinesh, Madhavi Tripathi, Vinod Kumar Ramteke, Rajnish Sharma, Anupam Mondal

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Background: Neo-adjuvant chemotherapy plays an important role in treatment of breast cancer by decreasing the tumour load and it offers an opportunity to evaluate response of primary tumour to chemotherapy. Standard anatomical imaging modalities are unable to accurately reflect the response to chemotherapy until several cycles of drug treatment have been completed. Metabolic imaging using tracers like 18F-fluorodeoxyglucose (FDG) as a marker of glucose metabolism or amino acid tracers like L-methyl-11C methionine (MET) have potential role for the measurement of treatment response. In this study, our objective was to compare these two PET tracers for assessment of response to neoadjuvant chemotherapy, in locally advanced breast carcinoma. Methods: In our prospective study, 20 female patients with histology proven locally advanced breast carcinoma underwent PET-CT imaging using FDG and MET before and after three cycles of neoadjuvant chemotherapy (CAF regimen). Thereafter, all patients were taken for MRM and the resected specimen was sent for histo-pathological analysis. Tumour response to the neoadjuvant chemotherapy was evaluated by PET-CT imaging using PERCIST criteria and correlated with histological results. Responses calculated were compared for statistical significance using paired t- test. Results: Mean SUVmax for primary lesion in FDG PET and MET PET was 15.88±11.12 and 5.01±2.14 respectively (p<0.001) and for axillary lymph nodes was 7.61±7.31 and 2.75±2.27 respectively (p=0.001). Statistically significant response in primary tumour and axilla was noted on both FDG and MET PET after three cycles of NAC. Complete response in primary tumour was seen in only 1 patient in FDG and 7 patients in MET PET (p=0.001) whereas there was no histological complete resolution of tumor in any patient. Response to therapy in axillary nodes noted on both PET scans were similar (p=0.45) and correlated well with histological findings. Conclusions: For the primary breast tumour, FDG PET has a higher sensitivity and accuracy than MET PET and for axilla both have comparable sensitivity and specificity. FDG PET shows higher target to background ratios so response is better predicted for primary breast tumour and axilla. Also, FDG-PET is widely available and has the advantage of a whole body evaluation in one study.

Keywords: 11C-methionine, 18F-FDG, breast carcinoma, neoadjuvant chemotherapy

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Authors: Hamza I. Isa, Gezina C. H. Ferreira, Jan E. Crafford, Christoffel J. Botha

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Moraea pallida Bak. (yellow tulip) poisoning is the most important plant-induced cardiac glycoside toxicosis in South Africa. Cardiac glycoside poisonings collectively account for about 33 and 10 % mortalities due to plants, in large and small stock respectively, in South Africa. The toxic principle is 1α, 2α-epoxyscillirosidine, a bufadienolide. The aim of the study was to investigate the potential to develop a vaccine against epoxyscillirosidine. Epoxyscillirosidine and the related bufadienolides proscillaridin and bufalin, which are commercially available, were conjugated to the carrier proteins [Hen ovalbumin (OVA), bovine serum albumin (BSA) and keyhole limpet haemocyanin (KLH)], rendering them immunogenic. Adult male New Zealand White rabbits were immunized. In Trials 1 and 2, rabbits (n=6) were, each assigned to two groups. Experimental animals (n=3; n=4) were vaccinated with epoxyscillirosidine-OVA conjugate, while the control (n=3; n=2) were vaccinated with OVA, using Freund’s complete and incomplete and Montanide adjuvants, for Trials 1 and 2, respectively. In Trial 3, rabbits (n=15), randomly allocated to 5 equal groups (I, II, III, IV and V), were vaccinated with proscillaridin-BSA, bufalin-BSA, epoxyscillirosidine-KLH, epoxyscillirosidine-BSA conjugates, and BSA respectively, using Montanide as adjuvant. Vaccination was on Days 0, 21 and 42. Additional vaccinations were done on Day 56 and 63 for Trial 1. Vaccination was by intradermal injection of 0.4 ml of the immunogen (4 mg/ml [Trial 1] and 8 mg/ml for Trials 2 and Trial 3, respectively). Blood was collected pre-vaccination and at 3 week intervals following each vaccination. Antibody response was determined using an indirect ELISA. There was poor immune response associated with the dose (0.4 mg per rabbit) and adjuvant used in Trial 1. Antibodies were synthesized against the conjugate administered in Trial 2. For Trail 3, antibodies against the immunogens were successfully raised in rabbits with epoxyscillirosidine-KLH inducing the highest immune response. The antibodies raised against proscillaridin and bufalin cross-reacted with epoxyscillirosidine when used as antigen in the ELISA. The study successfully demonstrated the synthesis of antibodies against the bufadienolide conjugates administered. The cross-reactivity of proscillaridin and bufalin with epoxyscillirosidine could potentially be utilized as alternative to epoxyscillirosidine in future studies to prevent yellow tulp poisoning by vaccination.

Keywords: antibodies , bufadienolides, cross-reactivity, epoxyscillirosidine, Moraea pallida, poisoning

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Authors: Hamza Javar Magnier, Leslie V. Woodcock

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We report extensive molecular dynamics (MD) computational investigations into the thermodynamic description of supercritical properties for a model fluid that is the simplest realistic representation of atoms or molecules. The pair potential is a hard-sphere repulsion of diameter σ with a very short attraction of length λσ. When λ = 1.005 the range is so short that the model atoms are referred to as “adhesive spheres”. Molecular dimers, trimers …etc. up to large clusters, or droplets, of many adhesive-sphere atoms are unambiguously defined. This then defines percolation transitions at the molecular level that bound the existence of gas and liquid phases at supercritical temperatures, and which define the existence of a supercritical mesophase. Both liquid and gas phases are seen to terminate at the loci of percolation transitions, and below a second characteristic temperature (Tc2) are separated by the supercritical mesophase. An analysis of the distribution of clusters in gas, meso- and liquid phases confirms the colloidal nature of this mesophase. The general phase behaviour is compared with both experimental properties of the water-steam supercritical region and also with formally exact cluster theory of Mayer and Mayer. Both are found to be consistent with the present findings that in this system the supercritical mesophase narrows in density with increasing T > Tc and terminates at a higher Tc2 at a confluence of the primary percolation loci. The expended plot of the MD data points in the mesophase of 7 critical and supercritical isotherms in highlight this narrowing in density of the linear-slope region of the mesophase as temperature is increased above the critical. This linearity in the mesophase implies the existence of a linear combination rule between gas and liquid which is an extension of the Lever rule in the subcritical region, and can be used to obtain critical parameters without resorting to experimental data in the two-phase region. Using this combination rule, the calculated critical parameters Tc = 0.2007 and Pc = 0.0278 are found be agree with the values found by of Largo and coworkers. The properties of this supercritical mesophase are shown to be consistent with an alternative description of the phenomenon of critical opalescence seen in the supercritical region of both molecular and colloidal-protein supercritical fluids.

Keywords: critical opalescence, supercritical, square-well, percolation transition, critical parameters.

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

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

Keywords: subcutaneous fat necrosis, newborn, hypercalcemia, nephrocalcinosis

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Authors: Ana Elisa Ribeiro Costa, Sónia Daniela Ferreira Miranda, João Pedro De Carvalho Pereira, João Carlos Simões Bernardo

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Elastomeric thermoplastics (TPEs) have been widely used in the footwear industry over the years. Recently this industry has been requesting materials that can combine lightweight and high abrasion resistance. Although there are blowing agents on the market to improve the lightweight, when these are incorporated into molten polymers during the extrusion or injection molding, it is necessary to have some specific processing conditions (e.g. effect of temperature and hydrodynamic stresses) to obtain good properties and acceptable surface appearance on the final products. Therefore, it is a great advantage for the compounder industry to acquire compounds that already include the blowing agents. In this way, they can be handled and processed under the same conditions as a conventional raw material. In this work, the expandable TPEs compounds, namely a TPU and a SEBS, with the incorporation of blowing agents, have been developed through a co-rotating modular twin-screw parallel extruder. Different blowing agents such as thermo-expandable microspheres and an azodicarbonamide were selected and different screw configurations and temperature profiles were evaluated since these parameters have a particular influence on the expansion inhibition of the blowing agents. Furthermore, percentages of incorporation were varied in order to investigate their influence on the final product properties. After the extrusion of these compounds, expansion was tested by the injection process. The mechanical and physical properties were characterized by different analytical methods like tensile, flexural and abrasive tests, determination of hardness and density measurement. Also, scanning electron microscopy (SEM) was performed. It was observed that it is possible to incorporate the blowing agents on the TPEs without their expansion on the extrusion process. Only with reprocessing (injection molding) did the expansion of the agents occur. These results are corroborated by SEM micrographs, which show a good distribution of blowing agents in the polymeric matrices. The other experimental results showed a good mechanical performance and its density decrease (30% for SEBS and 35% for TPU). This study suggested that it is possible to develop optimized compounds for footwear applications (e.g., sole shoes), which only will be able to expand during the injection process.

Keywords: blowing agents, expandable thermoplastic elastomeric compounds, low density, footwear applications

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Authors: Alessandra Turini Bolsoni-Silva, Sonia Regina Loureiro

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It is important to evaluate such variables simultaneously and differentiating types of behavior problems: internalizing, externalizing and with comorbidity of internalizing and externalizing. The objective was to compare, correlate and predict teacher educational practices (educational social skills and negative practices) and children's behaviors (social skills and behavior problems) of children with internalizing, externalizing and combined internalizing and externalizing problems, controlling variables of child (gender and education). A total of 262 children were eligible to compose the participants, considering preschool age from 3 to 5 years old (n = 109) and school age from 6 to 11 (n = 153) years old, and their teachers who were distributed, in designs case-control, non-clinical, with internalizing, externalizing problems and internalizing and externalizing comorbidity, using the Teacher's Report Form (TRF) as a criterion. The instruments were applied with the teachers, after consent from the parents/guardians: a) Teacher’s Report Form (TRF); b) Educational Social Skills Interview Guide for Teachers (RE-HSE-Pr); (c) Socially Skilled Response Questionnaire – Teachers (QRSH-Pr). The data were treated by univariate and multivariate analyses, proceeding with comparisons, correlations and predictions regarding the outcomes of children with and without behavioral problems, considering the types of problems. As main results stand out: (a) group comparison studies: in the Inter group there is emphasis on behavior problems in affection interactions, which does not happen in the other groups; as for positive practices, they discriminate against groups with externalizing and combined problems and not in internalizing ones, positive educational practices – hse are more frequent in the G-Exter and G-Inter+Exter groups; negative practices differed only in the G-Exter and G-Inter+Exter groups; b) correlation studies: it can be seen that the Inter+Exter group presents a greater number of correlations in the relationship between behavioral problems/complaints and negative practices and between children's social skills and positive practices/contexts; c) prediction studies: children's social skills predict internalizing, externalizing and combined problems; it is also verified that the negative practices are in the multivariate model for the externalizing and combined ones. This investigation collaborates in the identification of risk and protective factors for specific problems, helping in interventions for different problems.

Keywords: development, educational practices, social skills, behavior problems, teacher

Procedia PDF Downloads 46

Authors: David C. Boettiger, Tracy Kuo Lin, Maram Almansour, Mariam M. Hamza, Reem Alsukait, Christopher H. Herbst, Nada Altheyab, Ayman Afghani, Faisal Kattan

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Background The number of people aged greater than 65 years per 100 people aged 20–64 years is expected to almost double in The Kingdom of Saudi Arabia (KSA) between 2020 and 2030. We therefore aimed to quantify the growing non-communicable disease (NCD) burden in KSA between 2020 and 2030, and the impact this will have on the national health budget. Methods Ten priority NCDs were selected: ischemic heart disease, stroke, type 2 diabetes, chronic obstructive pulmonary disease, chronic kidney disease, dementia, depression, osteoarthritis, colorectal cancer, and breast cancer. Age- and sex-specific prevalence was projected for each priority NCD between 2020 and 2030. Treatment coverage rates were applied to the projected prevalence estimates to calculate the number of patients incurring treatment costs for each condition. For each priority NCD, the average cost-of-illness was estimated based on published literature. The impact of changes to our base-case model in terms of assumed disease prevalence, treatment coverage, and costs of care, coming into effect from 2023 onwards, were explored. Results The prevalence estimates for colorectal cancer and stroke were estimated to almost double between 2020 and 2030 (97% and 88% increase, respectively). The only priority NCD prevalence projected to increase by less than 60% between 2020 and 2030 was for depression (22% increase). It is estimated that the total cost of managing priority NCDs in KSA will increase from USD 19.8 billion in 2020 to USD 32.4 billion in 2030 (an increase of USD 12.6 billion or 63%). The largest USD value increases were projected for osteoarthritis (USD 4.3 billion), diabetes (USD 2.4 billion), and dementia (USD 1.9 billion). In scenario analyses, our 2030 projection for the total cost of managing priority NCDs varied between USD 29.2 billion - USD 35.7 billion. Conclusions Managing the growing NCD burden in KSA’s aging population will require substantial healthcare spending increases over the coming years.

Keywords: aging, non communicable disease, costs, Saudi Arabia

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Authors: Mahmoud Mourad, Ahmad Hamza H. Ali, S.Ookawara, Ali Kamel Abdel-Rahman, Nady M. Abdelkariem

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The energy consumption of a house can be affected simultaneously by many building design factors related to its main architectural features, building elements and materials. This study focuses on the impact of passive design factors on the annual energy consumption of a suggested prototype house for single-family detached houses of 240 m2 in two floors, each floor of 120 m2 in new Egyptian cities located in (Alexandria - Cairo - Siwa - Assuit – Aswan) which resemble five different climatic zones (Northern coast – Northern upper Egypt - dessert region- Southern upper Egypt – South Egypt) respectively. This study present the effect of the passive design factors affecting the building energy consumption as building orientation, building material (walls, roof and slabs), building type (residential, educational, commercial), building occupancy (type of occupant, no. of occupant, age), building landscape and site selection, building envelope and fenestration (glazing material, shading), and building plan form. This information can be used to estimate the approximate saving in energy consumption, which would result on a change in the design datum for the future houses development, and to identify the major design problems for energy efficiency. To achieve the above objective, this paper presents a study for the factors affecting on the building energy consumption in the hot arid area in new Egyptian cities in five different climatic zones , followed by defining the energy needs for different utilization in this suggested prototype house. Consequently, a detailed analysis of the available Renewable Energy utilizations technologies used in the suggested home, and a calculation of the energy as a function of yearly distribution that required for this home will presented. The results obtained from building annual energy analyses show that architecture passive design factors saves about 35% of the annual energy consumption. It shows also passive cooling techniques saves about 45%, and renewable energy systems saves about 40% of the annual energy needs for this proposed home depending on the cities location on the climatic zones.

Keywords: architecture passive design factors, energy efficient homes, Egypt new cites, renewable energy technologies

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Authors: Sonia Arradaza-Pajaron

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This study examined the relationship between transformational leadership (TL) and self-efficacy (SE) of academic heads in the implementation of a customized English language curriculum (CELC) among technological state universities and colleges in Leyte provinces and Biliran, Philippines. Results manifested that academic leaders practiced transformational leadership and are self-efficacious enough but with only moderate level in the effectiveness of CELC implementation. It was found out; further, that of the four identified transformational leadership components, except idealized influence, three of which demonstrated a significant relationship with CELC component variables, although in varying degree. Moreover, self-efficacy sources, especially vicarious experiences and verbal persuasion manifested moderate to high significant relationships with effective CELC curriculum implementation. Further, verbal persuasion and physiological/emotional condition manifested significant relationship with CELC-resource and CELC-contextual/community influence, respectively. Regression analysis showed that TL-individualized consideration component explained wider extent when correlated with CELC contextual/community components, while self-efficacy source-verbal persuasion demonstrated a wider extent with the three CELC components, namely; resource, process and physiological/emotional condition. Results further revealed that TL-individualized consideration manifested lesser influence with CELC implementation, while SE-verbal persuasion demonstrated stronger influence or effect on CELC-process, CELC-physiological/emotional, while lesser influence with CELC-resource. This implies that academic leaders, in order to carry out effective curriculum implementation, should provide more emphasis on school culture, its beliefs, practices and academic atmosphere but most of all empower human resources who are considered the backbone of the work place and can be directly affected by any curriculum shifts and challenges. To realize this, more values-skilled training programs must be designed for academic heads are needed to equip them with the necessary leadership skills, beliefs in their capacity to lead and their own enhance emotional well-being in leading subordinates and facilitating curriculum implementation.

Keywords: Customized English Language curriculum, CELC, self-efficacy, transformational leadership, values-skilled training

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

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Introduction: Ciliopathies are a spectrum of diseases that have in common a defect in the synthesis of ciliary proteins. It is a rare cause of neonatal cholestasis. Clinical presentation varies extremely, and the main affected organs are the kidneys, liver, and pancreas. Methodology: This is a descriptive case report of a newborn who was admitted for exploration of neonatal cholestasis in the Paediatric Department C at the Children’s Hospital of Tunis, where the investigations concluded with a rare genetic mutation. Results: This is the case of a newborn male with no family history of hepatic and renal diseases, born to consanguineous parents, and from a well-monitored uneventful pregnancy. He developed jaundice on the second day of life, for which he received conventional phototherapy in the neonatal intensive care unit. He was admitted at 15 days for mild bronchiolitis. On clinical examination, intense jaundice was noted with normal stool and urine colour. Initial blood work showed an elevation in conjugated bilirubin and a high gamma-glutamyl transferase level. Transaminases and prothrombin time were normal. Abdominal sonography revealed hepatomegaly, splenomegaly, and undifferentiated renal cortex with bilateral medullar micro-cysts. Kidney function tests were normal. The infant received ursodeoxycholic acid and vitamin therapy. Genetic testing showed a homozygous mutation in the DCDC2 gene that hadn’t been documented before confirming the diagnosis of renal-hepatic ciliopathy. The patient has regular follow-ups, and his conjugated bilirubin and gamma-glutamyl transferase levels have been decreasing. Conclusion: Genetic testing has revolutionized the approach to etiological diagnosis in pediatric cholestasis. It enables personalised treatment strategies to better enhance the quality of life of patients and prevent potential complications following adequate long-term monitoring.

Keywords: cholestasis, newborn, ciliopathy, DCDC2, genetic

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Authors: Ali Hamza

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Accurate segmentation of breast ultrasound images is of paramount importance in enhancing the diagnostic capabilities of breast cancer detection. This study presents an approach utilizing the U-Net architecture for segmenting breast ultrasound images aimed at improving the accuracy and reliability of mass identification within the breast tissue. The proposed method encompasses a multi-stage process. Initially, preprocessing techniques are employed to refine image quality and diminish noise interference. Subsequently, the U-Net architecture, a deep learning convolutional neural network (CNN), is employed for pixel-wise segmentation of regions of interest corresponding to potential breast masses. The U-Net's distinctive architecture, characterized by a contracting and expansive pathway, enables accurate boundary delineation and detailed feature extraction. To evaluate the effectiveness of the proposed approach, an extensive dataset of breast ultrasound images is employed, encompassing diverse cases. Quantitative performance metrics such as the Dice coefficient, Jaccard index, sensitivity, specificity, and Hausdorff distance are employed to comprehensively assess the segmentation accuracy. Comparative analyses against traditional segmentation methods showcase the superiority of the U-Net architecture in capturing intricate details and accurately segmenting breast masses. The outcomes of this study emphasize the potential of the U-Net-based segmentation approach in bolstering breast ultrasound image analysis. The method's ability to reliably pinpoint mass boundaries holds promise for aiding radiologists in precise diagnosis and treatment planning. However, further validation and integration within clinical workflows are necessary to ascertain their practical clinical utility and facilitate seamless adoption by healthcare professionals. In conclusion, leveraging the U-Net architecture for breast ultrasound image segmentation showcases a robust framework that can significantly enhance diagnostic accuracy and advance the field of breast cancer detection. This approach represents a pivotal step towards empowering medical professionals with a more potent tool for early and accurate breast cancer diagnosis.

Keywords: mage segmentation, U-Net, deep learning, breast cancer detection, diagnostic accuracy, mass identification, convolutional neural network

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Authors: Emilio A. Berny-Brandt, Sonia E. Ruiz

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Steel tubular towers serving as support structures for large wind turbines are subject to several hundred million stress cycles arising from the turbulent nature of the wind. This causes high-cycle fatigue which can govern tower design. The practice of maintaining the support structure after wind turbines reach its typical 20-year design life have become common, but without quantifying the changes in the reliability on the tower. There are several studies on this topic, but most of them are based on the S-N curve approach using the Miner’s rule damage summation method, the de-facto standard in the wind industry. However, the qualitative nature of Miner’s method makes desirable the use of fracture mechanics to measure the effects of fatigue in the capacity curve of the structure, which is important in order to evaluate the integrity and reliability of these towers. Temporal and spatially varying wind speed time histories are simulated based on power spectral density and coherence functions. Simulations are then applied to a SAP2000 finite element model and step-by-step analysis is used to obtain the stress time histories for a range of representative wind speeds expected during service conditions of the wind turbine. Rainflow method is then used to obtain cycle and stress range information of each of these time histories and a statistical analysis is performed to obtain the distribution parameters of each variable. Monte Carlo simulation is used here to evaluate crack growth over time in the tower base using the Paris-Erdogan equation. A nonlinear static pushover analysis to assess the capacity curve of the structure after a number of years is performed. The capacity curves are then used to evaluate the changes in reliability of a steel tower located in Oaxaca, Mexico, where wind energy facilities are expected to grow in the near future. Results show that fatigue on the tower base can have significant effects on the structural capacity of the wind turbine, especially after the 20-year design life when the crack growth curve starts behaving exponentially.

Keywords: crack growth, fatigue, Monte Carlo simulation, structural reliability, wind turbines

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Authors: Tayyaba Bari, Muhammad Hamza Anjum, Samra Kanwal, Fakhera Ikram

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Osteoarthritis, a degenerative condition, affects more than 213 million individuals globally. Since articular cartilage has no or limited vessels, therefore, after deteriorating, it is unable to rejuvenate. Traditional approaches for cartilage repair, like autologous chondrocyte implantation, microfracture and cartilage transplantation are often associated with postoperative complications and lead to further degradation. Decellularized human umbilical cord has gained interest as a viable treatment for cartilage repair. Decellularization removes all cellular contents as well as debris, leaving a biologically active 3D network known as extracellular matrix (ECM). This matrix is biodegradable, non-immunogenic and provides a microenvironment for homeostasis, growth and repair. UC derived bioink function as 3D scaffolding material, not only mediates cell-matrix interactions but also adherence, proliferation and propagation of cells for 3D organoids. This study comprises different physical, chemical and biological approaches to optimize the decellularization of human umbilical cord (UC) tissues followed by the solubilization of these tissues to bioink formation. The decellularization process consisted of two cycles of freeze thaw where the umbilical cord at -20˚C was thawed at room temperature followed by dissection in small sections from 0.5 to 1cm. Similarly decellularization with ionic and non-ionic detergents Sodium dodecyl sulfate (SDS) and Triton-X 100 revealed that both concentrations of SDS i.e 0.1% and 1% were effective in complete removal of cells from the small UC tissues. The results of decellularization was further confirmed by running them on 1% agarose gel. Histological analysis revealed the efficacy of decellularization, which involves paraffin embedded samples of 4μm processed for Hematoxylin-eosin-safran and 4,6-diamidino-2-phenylindole (DAPI). ECM preservation was confirmed by Alcian Blue, and Masson’s trichrome staining on consecutive sections and images were obtained. Sulfated GAG’s content were determined by 1,9-dimethyl-methylene blue (DMMB) assay, similarly collagen quantification was done by hydroxy proline assay. This 3D bioengineered scaffold will provide a typical atmosphere as in the extracellular matrix of the tissue, which would be seeded with the mesenchymal cells to generate the desired 3D ink for in vitro and in vivo cartilage regeneration applications.

Keywords: umbilical cord, 3d printing, bioink, tissue engineering, cartilage regeneration

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Authors: Fatimah Abd Elghani, Raymonde Szargel, Vered Shani, Hazem Safory, Haya Hamza, Mor Savyon, Ruth Rott, Rina Bandopadhyay, Simone Engelender

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Background: PINK1 is a mitochondrial kinase mutated in some familial cases of Parkinson’s disease. Down regulation of PINK1 results in abnormal mitochondrial morphology and altered membrane potential. Although PINK1 has a predicted mitochondrial import sequence, it’s cellular, and submitochondrial localization remains unclear, in part because it is rapidly degraded. In this work, we investigated the mechanisms involved in PINK1 degradation and how this may affect PINK1 stability and function, with implications for mitochondrial function in PD. In addition, pharmacological inhibition of proteasome activity was shown to lead to PINK1 accumulation, indicating that PINK1 degradation depends on the ubiquitin-proteasome system (UPS). Methods: Using co-immunoprecipitation assays, we identified E3 ubiquitin ligase SIAH1 as a PINK1-interacting protein in HEK293 cells as well as on rat brain tissues. In addition, we determined the effect of SIAH 1, SIAH2 and Parkin on PINK1 steady-state levels by Western blot analysis, and checked their possibility to ubiquitinate and mediate PINK1 degradation through the proteasome carried out in vivo ubiquitination experiments. Results: We have obtained results showing that SIAH-1 interacts with and ubiquitinates PINK1. The ubiquitination promoted by SIAH-1 leads to the proteasomal degradation of PINK1. We confirmed these findings by knocking down SIAH-1 and observing important accumulation of PINK1 in cells. Besides, we found that SIAH-1 decreases PINK1 steady-state levels but not the E3 ligase Parkin. We also investigated the interaction of SIAH-1 with PINK1 disease mutants and its ability to promote their ubiquitination and degradation. Although, no clear difference in the ability of SIAH-1 to promote the degradation of PINK1 disease mutants was observed. It is possible that dysfunction of proteasomal activity in the disease may lead to the accumulation and aggregation of ubiquitinated PINK1 in patients with PINK1 mutations, with possible implications to the pathogenesis of PD. Conclusions: Here, we demonstrated that SIAH-1 ubiquitinates and promotes the degradation of PINK1. In addition, SIAH-1 represents now a target that may help the improvement of mitophagy in PD. Further investigations needed to understand how mitophagy is regulated by PINK1-SIAH-1 axis to provide targets for future therapeutics.

Keywords: PD, Parkinson's disease, PINK1, PTEN-induced kinase1, SIAH, seven in absentia homolog, SN, substantia nigra

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Authors: Bouchekoua Myriam, Aloui Dorsaf, Trabelsi Sonia

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Introduction Food hygiene in hospitals is important, particularly among patients who could be more vulnerable than healthy subjects to microbiological and nutritional risks. The consumption of contaminated food may be responsible for foodborne diseases, which can be severe among hospitalized patients, especially those immunocompromised. The aim of our study was to assess the state of hygiene in the internal catering department of a Tunisian hospital. Methodology and major results: A prospective study was conducted for one year in the Parasitology-Mycology laboratory of Charles Nicolle Hospital. Samples were taken from the kitchen staff, worktops, and cooking utensils used in the internal catering department. Thirty one employees have benefited from stool exams and scotch tape in order to evaluate the degree of infestation of parasites. 35% of stool exams were positive. Protozoa were the only parasites detected. Blastocystis sp was the species mostly found in nine food handlers. Its role as a human pathogen is still controversial. Pathogenic protozoa were detected in two food handlers (Giardia intestinalis in one person and Dientamoeba fragilis in the other one. Non-pathogenic protozoa were found in two cases; among them, only one had digestive symptoms without a statistically significant association with the carriage of intestinal parasites. Moreover, samples were performed from the hands of the staff in order to search for a fungal carriage. Thus, 25 employees (81%) were colonized by fungi, including molds. Besides, mycological examination among food handlers with a suspected dermatomycosis for diagnostic confirmation concluded foot onychomycosis in 32% of cases and interdigital intertrigo in 26%. Only one person had hand onychomycosis. Among the 17 samples taken from worktops and kitchen utensils, fungal contamination was detected in 13 sites. Hot and cold equipment were the most contaminated. Molds were mainly identified as belonging to five different genera. Cladosporium sp was predominant. Conclusion: In the view of the importance of intestinal parasites among food handlers, the intensity of fungi hand carriage among these employees, and the high level of fungal contamination in worktops and kitchen utensils, a reinforcement of hygiene measures is more than essential in order to minimize the alimentary contamination-risk.

Keywords: hospital kitchen, environment, intestinal parasitosis, fungal carriage, fungal contamination

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Authors: Hamza Javar Magnier, Robin Curtis

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There have been rapid advances in the upstream processing of protein therapeutics, which has shifted the bottleneck to downstream purification and formulation. Finding liquid formulations with shelf lives of up to two years is increasingly difficult for some of the newer therapeutics, which have been engineered for activity, but their formulations are often viscous, can phase separate, and have a high propensity for irreversible aggregation1. We explore means to develop improved predictive ability from a better understanding of how protein-protein interactions on formulation conditions (pH, ionic strength, buffer type, presence of excipients) and how these impact upon the initial steps in protein self-association and aggregation. In this work, we study the initial steps in the aggregation pathways using a minimal protein model based on square-well potentials and discontinuous molecular dynamics. The effect of model parameters, including range of interaction, stiffness, chain length, and chain sequence, implies that protein models fold according to various pathways. By reducing the range of interactions, the folding- and collapse- transition come together, and follow a single-step folding pathway from the denatured to the native state2. After parameterizing the model interaction-parameters, we developed an understanding of low-temperature conformational properties and fluctuations, and the correlation to the folding transition of proteins in isolation. The model fluctuations increase with temperature. We observe a low-temperature point, below which large fluctuations are frozen out. This implies that fluctuations at low-temperature can be correlated to the folding transition at the melting temperature. Because proteins “breath” at low temperatures, defining a native-state as a single structure with conserved contacts and a fixed three-dimensional structure is misleading. Rather, we introduce a new definition of a native-state ensemble based on our understanding of the core conservation, which takes into account the native fluctuations at low temperatures. This approach permits the study of a large range of length and time scales needed to link the molecular interactions to the macroscopically observed behaviour. In addition, these models studied are parameterized by fitting to experimentally observed protein-protein interactions characterized in terms of osmotic second virial coefficients.

Keywords: protein folding, native-ensemble, conformational fluctuation, aggregation

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Authors: Sonia Saddiqui, Maya Marcus

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UTS STEAMpunk Girls is an educational program for young women (aged 12-16), to empower them to be more informed and active members of the 21st century workforce. With the number of STEM graduates on the decline, especially among young women, an additional aim of the program is to trial a STEAM (Science, Technology, Engineering, Arts/Humanities/Social Sciences, Mathematics), inter-disciplinary approach to improving STEM engagement. In-line with UNESCO’s recent focus on promoting ‘transversal competencies’ in future graduates, the program utilised co-design, project-based learning, entrepreneurial processes, and inter-disciplinary learning. The program consists of two phases. Taking a participatory design approach, the first phase (co-design workshops) provided valuable insight into student perspectives around engaging young women in STEM and inter-disciplinary thinking. The workshops positioned 26 young women from three schools as subject matter experts (SMEs), providing a platform for them to share their opinions, experiences and findings around the STEAM disciplines. The second (pilot) phase put the co-design phase findings into practice, with 64 students from four schools working in groups to articulate problems with real-world implications, and utilising design-thinking to solve them. The pilot phase utilised project-based learning to engage young women in entrepreneurial and STEAM frameworks and processes. Scalable program design and educational resources were trialed to determine appropriate mechanisms for engaging young women in STEM and in STEAM thinking. Across both phases, data was collected via longitudinal surveys to obtain pre-program, baseline attitudinal information, and compare that against post-program responses. Preliminary findings revealed students’ improved understanding of the STEM disciplines, industries and professions, improved awareness of STEAM as a concept, and improved understanding regarding inter-disciplinary and design thinking. Program outcomes will be of interest to high-school educators in both STEM and the Arts, Humanities and Social Sciences fields, and will hopefully inform future programmatic approaches to introducing inter-disciplinary STEAM learning in STEM curriculum.

Keywords: co-design, STEM, STEAM, project-based learning, inter-disciplinary

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Authors: Taleb Lotfi, Benarbia Maheidine, Allam Hamza, Boutira Fatima, Boukerche Abdelbaki

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Introduction and purpose of the study: This is a retrospective single-center study with an analytical aim to determine the prognostic factors for relapse in patients treated with radiotherapy after total laryngectomy with lymph node dissection for laryngeal cancer at the Emir Abdelkader cancer center in Oran (Algeria). Material and methods: During the study period from January 2014 to December 2018, eighty-nine patients (n=89) with squamous cell carcinoma of the larynx were treated with postoperative radiotherapy. Relapse-free survival was studied in the univariate analysis according to pre-treatment criteria using Kaplan-Meier survival curves. We performed a univariate analysis to identify relapse factors. Statistically significant factors have been studied in the multifactorial analysis according to the Cox model. Results and statistical analysis: The average age was 62.7 years (40-86 years). It was a squamous cell carcinoma in all cases. Postoperatively, the tumor was classified as pT3 and pT4 in 93.3% of patients. Histological lymph node involvement was found in 36 cases (40.4%), with capsule rupture in 39% of cases, while the limits of surgical excision were microscopically infiltrated in 11 patients (12.3%). Chemotherapy concomitant with radiotherapy was used in 67.4% of patients. With a median follow-up of 57 months (23 to 104 months), the probabilities of relapse-free survival and five-year overall survival are 71.2% and 72.4%, respectively. The factors correlated with a high risk of relapse were locally advanced tumor stage pT4 (p=0.001), tumor site in case of subglottic extension (p=0.0003), infiltrated surgical limits R1 (p=0.001), l lymph node involvement (p=0.002), particularly in the event of lymph node capsular rupture (p=0.0003) as well as the time between surgery and adjuvant radiotherapy (p=0.001). However, in the subgroup analysis, the major prognostic factors for disease-free survival were subglottic tumor extension (p=0.001) and time from surgery to adjuvant radiotherapy (p=0.005). Conclusion: Combined surgery and postoperative radiation therapy are effective treatment modalities in the management of laryngeal cancer. Close cooperation of the entire cervicofacial oncology team is essential, expressed during a multidisciplinary consultation meeting, with the need to respect the time between surgery and radiotherapy.

Keywords: laryngeal cancer, laryngectomy, postoperative radiotherapy, survival

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Authors: Sonia Pajaron, Flaviano Sentina, Ranulfo Etulle

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Learning a second language calls for a total commitment from the learner whose response is necessary to successfully send and receive linguistic messages. It is relevant to virtually every aspect of human behaviour which is even more challenging when the components on -affective domains- are involved in second language learning. This study investigated the association between the identified affective attributes and second language performance of the one hundred seventeen (117) randomly selected third year maritime students. A descriptive-correlational method was utilized to generate data on their affective attributes while composition writing (2 series) and IELTS-based interview was done for speaking test. Additionally, to establish the respondents’ English language profile, data on their high school grades (GPA), entrance exam results in English subject (written) as well as in the interview was extracted as baseline information. Data were subjected to various statistical treatment (average means, percentages and pearson-r moment coefficient correlation) and found out that, Nautical Science and Marine Engineering students were found to have average high school grade, entrance test results, both written and in the interview turned out to be very satisfactory at 50% passing percentage. Varied results were manifested in their affective attributes towards learning the second language. On attitude, nautical science students had true positive attitude while marine engineering had only a moderate positive one. Secondly, the former were positively motivated to learn English while the latter were just moderately motivated. As regards anxiety, both groups embodied a moderate level of anxiety in the English language. Finally, data showed that nautical science students exuded real confidence while the marine engineering group had only moderate confidence with the second language. Respondents’ English academic achievement (GWA) was significantly correlated with confidence and speaking with anxiety towards the second language among the students from the nautical science group with moderate positive and low negative degree of correlation, respectively. On the other hand, the marine engineering students’ speaking test result was significantly correlated with anxiety and self-confidence with a moderate negative and low positive degree of correlation, respectively while writing was significantly correlated with motivation bearing a low positive degree of correlation.

Keywords: affective attributes, second language, second language performance, anxiety, attitude, self-confidence and motivation

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Authors: Fikret Yalcinkaya, Hamza Unsal

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To understand how neurons work, it is required to combine experimental studies on neural science with numerical simulations of neuron models in a computer environment. In this regard, the simplicity and applicability of spiking neuron modeling functions have been of great interest in computational neuron science and numerical neuroscience in recent years. Spiking neuron models can be classified by exhibiting various neuronal behaviors, such as spiking and bursting. These classifications are important for researchers working on theoretical neuroscience. In this paper, three different spiking neuron models; Izhikevich, Adaptive Exponential Integrate Fire (AEIF) and Hindmarsh Rose (HR), which are based on first order differential equations, are discussed and compared. First, the physical meanings, derivatives, and differential equations of each model are provided and simulated in the Matlab environment. Then, by selecting appropriate parameters, the models were visually examined in the Matlab environment and it was aimed to demonstrate which model can simulate well-known biological neuron behaviours such as Tonic Spiking, Tonic Bursting, Mixed Mode Firing, Spike Frequency Adaptation, Resonator and Integrator. As a result, the Izhikevich model has been shown to perform Regular Spiking, Continuous Explosion, Intrinsically Bursting, Thalmo Cortical, Low-Threshold Spiking and Resonator. The Adaptive Exponential Integrate Fire model has been able to produce firing patterns such as Regular Ignition, Adaptive Ignition, Initially Explosive Ignition, Regular Explosive Ignition, Delayed Ignition, Delayed Regular Explosive Ignition, Temporary Ignition and Irregular Ignition. The Hindmarsh Rose model showed three different dynamic neuron behaviours; Spike, Burst and Chaotic. From these results, the Izhikevich cell model may be preferred due to its ability to reflect the true behavior of the nerve cell, the ability to produce different types of spikes, and the suitability for use in larger scale brain models. The most important reason for choosing the Adaptive Exponential Integrate Fire model is that it can create rich ignition patterns with fewer parameters. The chaotic behaviours of the Hindmarsh Rose neuron model, like some chaotic systems, is thought to be used in many scientific and engineering applications such as physics, secure communication and signal processing.

Keywords: Izhikevich, adaptive exponential integrate fire, Hindmarsh Rose, biological neuron behaviours, spiking neuron models

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Authors: Bunindro Nameirakpam, Sonia Sougrapakam, Shannon B. Olsson, Rajashekar Yallappa

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Natural sources for new pesticidal compounds hold promise in view of their eco-friendly nature, selectivity and mammalian safety. Despite a large number of plants that show insecticidal activity and diversity of natural chemistry with inherent eco-friendly nature, newer classes of insecticides have eluded discovery. Artemisia vulgaris, known as Mugwort, is a universal herb used for folk medicine and religious purposes throughout the ancient world. In India, the essential oils of Artemisia vulgaris are used for its insecticidal, anti parasiticidal and antimicrobial properties. Traditionally, the dried leaves of Artemisia vulgaris are used to repel insects as well as rats in and around the granaries in the North-East India. Artemisia vulgaris collected during November from different ecological sites were studied for the bio-pesticidal utility against the stored grain pests. The insecticidal activities were found in the crude extracts of n-hexane and methanol from the samples collected in Sikkim and Manipur respectively. Using silica gel column chromatography protocol, we have isolated one novel bioactive molecule from the aerial parts of Artemisia vulgaris L based on various physical-chemical and spectroscopic techniques (IR, 1H NMR, 13C NMR and mass). The novel bioactive molecule is highly toxic and very low concentration (4.35 µg/l) is needed to control the stored product insects. In additional experiment results clearly showed the involvement of sodium pumps inhibition in the insecticidal action of purified compound in the Sitophilus oryzae. The knockdown activity of the purified compound is concomitant with the in vivo inhibition of Na+/ K+- ATPase. Further, our study showed insignificant differences in the seed germination of control and the treated grains. The lack of adverse effect of the novel bioactive molecule on the seed germination is highly desirable for seed/grain protectant and showing the potential to be developed as possible natural fumigants for the control of stored grain pests. The novel bioactive molecule is selective insecticide with a high margin of safety to mammals and showed promise as novel biopesticide candidate for grain protection. It is believed that Bio-pesticides can serve as the most important pest management tools as far as global safety is concerned.

Keywords: Indian traditional plant, Artemisia vulgaris, bio-pesticides, Na+/ K+- ATPase, seed germination

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

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Introduction: Spondylothoracic dysostosis, also known as Jarcho-Levin syndrome, is defined by a shortened neck and thorax, a protruding abdomen, inguinal and umbilical hernias, atypical spinal structure and rib fusion, leading to restricted chest movement or difficulty in breathing, along with urinary tract abnormalities and, potentially severe scoliosis. Aim: This is the case of a patient diagnosed with Jarcho-Levin syndrome, aiming to detail the range of abnormalities observed in this syndrome, the observed complications, and the therapeutic approaches employed. Results: A three-month-old male infant, born of a consanguineous marriage, delivered at full term by cesarean section, was admitted to the pediatric department for severe acute bronchiolitis. In his prenatal history, morphological ultrasound revealed macrosomia, a shortened spine, irregular vertebrae with thickened skin, normal fetal cardiac ultrasound, and the absence of the right kidney. His perinatal history included respiratory distress, requiring ventilatory support for five days. Upon physical examination, he had stunted growth, scoliosis, a short neck and trunk, longer upper limbs compared to lower limbs, varus equinus in the right foot, a neural tube defect, a low hairline, and low-set ears. Spondylothoracic dysostosis was suspected, leading to further investigations, including a normal transfontaneous ultrasound, a spinal cord ultrasound revealing a lipomyelocele-type closed dysraphism with a low-attached cord, an abdominal ultrasound indicating a single left kidney, and a cardiac ultrasound identifying Kommerell syndrome. Due to a lack of resources, genetic testing could not be performed, and the diagnosis was based on clinical criteria. Conclusion: Jarcho-Levin syndrome can result in a mortality rate of about 50%, primarily due to respiratory complications associated with thoracic insufficiency syndrome. Other complications, like heart and neural tube defects, can also lead to premature mortality. Therefore, early diagnosis and comprehensive treatment involving various specialists are essential.

Keywords: Jarcho-Levin syndrome, congenital disorder, scoliosis, spondylothoracic dysostosis, neural tube defect

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Authors: Francesco Pantano, Marta Fogolari, Michele Iuliani, Sonia Simonetti, Silvia Cavaliere, Marco Russano, Fabrizio Citarella, Bruno Vincenzi, Silvia Angeletti, Giuseppe Tonini

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Background: Although immune checkpoint inhibitors (ICIs) have changed the treatment paradigm of non–small cell lung cancer (NSCLC), these drugs fail to elicit durable responses in the majority of NSCLC patients. The gut microbiota, able to regulate immune responsiveness, is emerging as a promising, modifiable target to improve ICIs response rates. Since the oral microbiome has been demonstrated to be the primary source of bacterial microbiota in the lungs, we investigated its composition as a potential predictive biomarker to identify and select patients who could benefit from immunotherapy. Methods: Thirty-five patients with stage IV squamous and non-squamous cell NSCLC eligible for an anti-PD-1/PD-L1 as monotherapy were enrolled. Saliva samples were collected from patients prior to the start of treatment, bacterial DNA was extracted using the QIAamp® DNA Microbiome Kit (QIAGEN) and the 16S rRNA gene was sequenced on a MiSeq sequencing instrument (Illumina). Results: NSCLC patients were dichotomized as “Responders” (partial or complete response) and “Non-Responders” (progressive disease), after 12 weeks of treatment, based on RECIST criteria. A prevalence of the phylum Candidatus Saccharibacteria was found in the 10 responders compared to non-responders (abundance 5% vs 1% respectively; p-value = 1.46 x 10-7; False Discovery Rate (FDR) = 1.02 x 10-6). Moreover, a higher prevalence of Saccharibacteria Genera Incertae Sedis genus (belonging to the Candidatus Saccharibacteria phylum) was observed in "responders" (p-value = 6.01 x 10-7 and FDR = 2.46 x 10-5). Finally, the patients who benefit from immunotherapy showed a significant abundance of TM7 Phylum Sp Oral Clone FR058 strain, member of Saccharibacteria Genera Incertae Sedis genus (p-value = 6.13 x 10-7 and FDR=7.66 x 10-5). Conclusions: These preliminary results showed a significant association between oral microbiota and ICIs response in NSCLC patients. In particular, the higher prevalence of Candidatus Saccharibacteria phylum and TM7 Phylum Sp Oral Clone FR058 strain in responders suggests their potential immunomodulatory role. The study is still ongoing and updated data will be presented at the congress.

Keywords: oral microbiota, immune checkpoint inhibitors, non-small cell lung cancer, predictive biomarker

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Authors: Sonia Bedhiaf-Romdhani

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The sheep (Ovis aries) was domesticated, approximately 11,000 years ago (YBP), in the Fertile Crescent from Asian Mouflon (Ovis Orientalis). The Northern African (NA) sheep is 7,000 years old, represents a remarkable diversity of sheep populations reared under traditional and low input farming systems (LIFS) over millennia. The majority of small ruminants in developing countries are encountered in low input production systems and the resilience of local communities in rural areas is often linked to the wellbeing of small ruminants. Regardless of the rich biodiversity encountered in sheep ecotypes there are four main sheep breeds in the country with 61,6 and 35.4 percents of Barbarine (fat tail breed) and Queue Fine de l’Ouest (thin tail breed), respectively. Phoenicians introduced the Barbarine sheep from the steppes of Central Asia in the Carthaginian period, 3000 years ago. The Queue Fine de l’Ouest is a thin-tailed meat breed heavily concentrated in the Western and the central semi-arid regions. The Noire de Thibar breed, involving mutton-fine wool producing animals, has been on the verge of extinction, it’s a composite black coated sheep breed found in the northern sub-humid region because of its higher nutritional requirements and non-tolerance of the prevailing harsher condition. The D'Man breed, originated from Morocco, is mainly located in the southern oases of the extreme arid ecosystem. A genetic investigation of Tunisian sheep breeds using a genome-wide scan of approximately 50,000 SNPs was performed. Genetic analysis of relationship between breeds highlighted the genetic differentiation of Noire de Thibar breed from the other local breeds, reflecting the effect of past events of introgression of European gene pool. The Queue Fine de l’Ouest breed showed a genetic heterogeneity and was close to Barbarine. The D'Man breed shared a considerable gene flow with the thin-tailed Queue Fine de l'Ouest breed. Native small ruminants breeds, are capable to be efficiently productive if essential ingredients and coherent breeding schemes are implemented and followed. Assessing the status of genetic variability of native sheep breeds could provide important clues for research and policy makers to devise better strategies for the conservation and management of genetic resources.

Keywords: sheep, farming systems, diversity, SNPs.

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Authors: Sonia Amariei, Ionut Avramia, Florin Ursachi, Ancuta Chetrariu, Ancuta Petraru

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The food industry is one of the major generators of plastic waste derived from conventional synthetic petroleum-based polymers, which are non-biodegradable, used especially for packaging. These packaging materials, after the food is consumed, accumulate serious environmental concerns due to the materials but also to the organic residues that adhere to them. It is the concern of specialists, researchers to eliminate problems related to conventional materials that are not biodegradable or unnecessary plastic and replace them with biodegradable and edible materials, supporting the common effort to protect the environment. Even though environmental and health concerns will cause more consumers to switch to a plant-based diet, most people will continue to add more meat to their diet. The paper presents the possibility of replacing the polyethylene packaging from the surface of the trays for meat preparations with biodegradable packaging obtained from biopolymers. During the storage of meat products may occur deterioration by lipids oxidation and microbial spoilage, as well as the modification of the organoleptic characteristics. For this reason, different compositions of polymer mixtures and film conditions for obtaining must be studied to choose the best packaging material to achieve food safety. The compositions proposed for packaging are obtained from alginate, agar, starch, and glycerol as plasticizers. The tensile strength, elasticity, modulus of elasticity, thickness, density, microscopic images of the samples, roughness, opacity, humidity, water activity, the amount of water transferred as well as the speed of water transfer through these packaging materials were analyzed. A number of 28 samples with various compositions were analyzed, and the results showed that the sample with the highest values for hardness, density, and opacity, as well as the smallest water vapor permeability, of 1.2903E-4 ± 4.79E-6, has the ratio of components as alginate: agar: glycerol (3:1.25:0.75). The water activity of the analyzed films varied between 0.2886 and 0.3428 (aw< 0.6), demonstrating that all the compositions ensure the preservation of the products in the absence of microorganisms. All the determined parameters allow the appreciation of the quality of the packaging films in terms of mechanical resistance, its protection against the influence of light, the transfer of water through the packaging. Acknowledgments: This work was supported by a grant of the Ministry of Research, Innovation, and Digitization, CNCS/CCCDI – UEFISCDI, project number PN-III-P2-2.1-PED-2019-3863, within PNCDI III.

Keywords: meat products, alginate, agar, starch, glycerol

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Authors: Hamza Benzerrouk, Alexander Nebylov

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In classical GNSS/INS integration designs, the loosely coupled approach uses the GNSS derived position and the velocity as the measurements vector. This design is suboptimal from the standpoint of preventing GNSSoutliers/outages. The tightly coupled GPS/INS navigation filter mixes the GNSS pseudo range and inertial measurements and obtains the vehicle navigation state as the final navigation solution. The ultra‐tightly coupled GNSS/INS design combines the I (inphase) and Q(quadrature) accumulator outputs in the GNSS receiver signal tracking loops and the INS navigation filter function intoa single Kalman filter variant (EKF, UKF, SPKF, CKF and HCKF). As mentioned, EKF and UKF are the most used nonlinear filters in the literature and are well adapted to inertial navigation state estimation when integrated with GNSS signal outputs. In this paper, it is proposed to move a step forward with more accurate filters and modern approaches called Cubature and High Degree cubature Kalman Filtering methods, on the basis of previous results solving the state estimation based on INS/GNSS integration, Cubature Kalman Filter (CKF) and High Degree Cubature Kalman Filter with (HCKF) are the references for the recent developed generalized Cubature rule based Kalman Filter (GCKF). High degree cubature rules are the kernel of the new solution for more accurate estimation with less computational complexity compared with the Gauss-Hermite Quadrature (GHQKF). Gauss-Hermite Kalman Filter GHKF which is not selected in this work because of its limited real-time implementation in high-dimensional state-spaces. In ultra tightly or a deeply coupled GNSS/INS system is dynamics EKF is used with transition matrix factorization together with GNSS block processing which is well described in the paper and assumes available the intermediary frequency IF by using a correlator samples with a rate of 500 Hz in the presented approach. GNSS (GPS+GLONASS) measurements are assumed available and modern SPKF with Cubature Kalman Filter (CKF) are compared with new versions of CKF called high order CKF based on Spherical-radial cubature rules developed at the fifth order in this work. Estimation accuracy of the high degree CKF is supposed to be comparative to GHKF, results of state estimation are then observed and discussed for different initialization parameters. Results show more accurate navigation state estimation and more robust GNSS receiver when Ultra Tightly Coupled approach applied based on High Degree Cubature Kalman Filter.

Keywords: GNSS, INS, Kalman filtering, ultra tight integration

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Authors: Sonia Tamanna, Akramul Hassan, Mohammad Shakil Mahmood, Farzana Ansari, Gowhar Rashid, Mir Fahim Faisal, M. Zakir Hossain Howlader

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Background: Preeclampsia (PE), a pregnancy-specific hypertensive disorder, significantly impacts maternal and fetal health. It is particularly prevalent in underdeveloped countries and is linked to preterm delivery and fetal growth. The renin-angiotensin system (RAS) plays a crucial role in ensuring a successful pregnancy outcome, with Angiotensin-Converting Enzyme 2 (ACE2) being a key component. ACE2 converts ANG II to Ang-(1-7), offering protection against ANG II-induced stress and inflammation while regulating blood pressure and osmotic balance during pregnancy. The reduced maternal plasma angiotensin-converting enzyme 2 (ACE2) seen in preeclampsia might contribute to its pathogenesis. However, there has been a dearth of comprehensive research into the association between ACE2 gene polymorphism and preeclampsia. In the South Asian population, hypertension is strongly linked to two SNPs: rs2285666 and rs879922. This genotype was therefore considered, and the possible association of maternal and fetal ACE2 gene polymorphism with preeclampsia within the Bangladeshi population was evaluated. Method: DNA was extracted from peripheral white blood cells (WBCs) using the organic method, and SNP genotyping was done via PCR-RFLP. Odds ratios (OR) with 95% confidence intervals (95% CI) were calculated using logistic regression to determine relative risk. Result: A comprehensive case-control study was conducted on 51 PE patients and their infants, along with 56 control subjects and their infants. Maternal single nuvleotide polymorphisms (SNP) (rs2285666) analysis revealed a strong association between the TT genotype and preeclampsia, with a four-fold increased risk in mothers (P=0.024, OR=4.00, 95% CI=1.36-11.37) compared to their ancestral genotype CC. However, the CT genotype (rs2285666) showed no significant difference (P=0.46, OR=1.54, 95% CI=0.57-4.14). Notably, no significant correlation was found in infants, regardless of their gender. For rs879922, no significant association was observed in both mothers and infants. This pioneering study suggests that mothers carrying the ACE2 gene variant rs2285666 (TT allele) may be at higher risk for preeclampsia, potentially influencing hypertension characteristics, whereas rs879922 does not appear to be associated with developing preeclampsia. Conclusion: This study sheds light on the role of ACE2 gene polymorphism, particularly the rs2285666 TT allele, in maternal susceptibility to preeclampsia. However, rs879922 does not appear to be linked to the risk of PE. This research contributes to our understanding of the genetic underpinnings of preeclampsia, offering insights into potential avenues for prevention and management.

Keywords: ACE2, PCR-RFLP, preeclampsia, single nuvleotide polymorphisms (SNPs)

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