Search results for: Duaa Dahbour
6 Design of a Computational Model to Support the Calculation of a Structural Health Index for Bridges
Authors: Oqba Al-Kuran, Reham Albadaineh, Adnan Almallah, Dana Al-Atrash, Duaa Dahbour
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Polycystic kidney disease (PKD) encompasses a spectrum of inherited disorders characterized by the formation of multiple cysts in the kidneys and other organs, leading to eventual kidney failure. Autosomal recessive polycystic kidney disease (ARPKD) represents a severe form, typically presenting in infancy with significant renal and hepatic involvement. We report a case of ARPKD in a female fetus, who is a part of twins, delivered at 36 weeks' gestation, exhibiting respiratory distress shortly after birth and subsequent demise. Ultrasonography during the mother's 20th week of pregnancy revealed characteristic findings suggestive of ARPKD in one of the twins. A whole exome sequencing revealed a pathogenic variant in the PKHD1 gene, underscoring the genetic basis of ARPKD. Management involves multidisciplinary care, emphasizing supportive therapy and monitoring for complications. Genetic counseling is pivotal, highlighting the risk of disease transmission and the role of prenatal genetic screening for at-risk families. Our case underscores the importance of early diagnosis, comprehensive management, and genetic counseling in ARPKD, particularly within the Jordanian population, and highlights a novel genetic variant contributing to disease manifestation.Keywords: ARPKD, Potter sequence, whole exome sequencing, genotype-phenotype correlation, variant
Procedia PDF Downloads 05 Development of a Delivery System for Statin Targeted Spray is a Breakthrough Therapy in Alzheimer’s Prevention
Authors: Fakhr Eddin Alnaal, Angela Dahdal, Duaa Aladib, Sabeen Ibrahim, Ibrahim Ghoraibi, Bissan Ahmed
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Dementia is one of the diseases which had several stages and Alzheimer’s term was selected in respect for the first doctor Alzheimer who defined the first symptoms of this diseases in a woman whom was well treated by him. The fact that this is a type of a silent disease on which you have a long-term process of neurological degradation and suddenly gives symptoms which are most often irreversible, on clinical level likely we can consider it as a malignancy, one in terms of that it is sudden shocking irreversible and on the level of behavior and some mortality beside the lack of early detection tools for diagnosis. Therefore, the goal of our project is to test the concept of the ability of Statin in prevention of such disease and we investigated that both on experimental level and most importantly on clinical one, the clinical part was performed in a recognized house of aged people who had accidently a high cholesterol and were for years given Statin to treat that elevation, however after the symptoms of Alzheimer’s appeared and when diagnosed, they were well treated and rapidly recovered compared to Alzheimer’s patients in the same house who did not receive Statin had a mild improvement in their symptoms after the therapy, on the other hand we confirmed such observation by a well-organized experimental work.Keywords: Alzheimer's, dementia, silent disease, statin
Procedia PDF Downloads 1254 Measuring Learning Independence and Transition through the First Year in Architecture
Authors: Duaa Al Maani, Andrew Roberts
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Students in higher education are expected to learn actively and independently. Whilst quite work has been done to understand the perceptions of students’ learning transition regarding independent learning, to author’s best knowledge, it seems relatively few published research on independent learning in studio-based subjects such as architecture. Another major issue in independent learning research concerned the inconsistency in terminology; there appears to be a paucity of research on its definition, challenges, and tools within the UK university sector. It is not always clear how independent learning works in practice, or what are the challenges that face students toward being independent learners. Accordingly, this paper seeks to highlight these problems by analyzing previous and current literature of independent learning, in addition, to measure students’ independence at the very begging of their first academic year and compare it with their level of learning independence at the end of the same year. Eighty-seven student enrolled in 2017/2018 at Cardiff University completed the Autonomous Learning Questionnaire in order to measure their level of learning independence. Students’ initial responses were very positive and showed high level of learning independence. Interestingly, these responses significantly decreased at the end of the year. Time management was the most obvious challenge facing students transition into higher education, and contrary to expectations, we found no effect of student maturity on their level of independence. Moreover, we found no significant differences among students’ gender, but we did find differences among nationalities.Keywords: autonomous learning, first year, learning independence, transition
Procedia PDF Downloads 1403 The Importance of Clinicopathological Features for Differentiation Between Crohn's Disease and Ulcerative Colitis
Authors: Ghada E. Esheba, Ghadeer F. Alharthi, Duaa A. Alhejaili, Rawan E. Hudairy, Wafaa A. Altaezi, Raghad M. Alhejaili
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Background: Inflammatory bowel disease (IBD) consists of two specific gastrointestinal disorders: ulcerative colitis (UC) and Crohn's disease (CD). Despite their distinct natures, these two diseases share many similar etiologic, clinical and pathological features, as a result, their accurate differential diagnosis may sometimes be difficult. Correct diagnosis is important because surgical treatment and long-term prognosis differ from UC and CD. Aim: This study aims to study the characteristic clinicopathological features which help in the differential diagnosis between UC and CD, and assess the disease activity in ulcerative colitis. Materials and methods: This study was carried out on 50 selected cases. The cases included 27 cases of UC and 23 cases of CD. All the cases were examined using H& E and immunohistochemically for bcl-2 expression. Results: Characteristic features of UC include: decrease in mucous content, irregular or villous surface, crypt distortion, and cryptitis, whereas the main cardinal histopathological features seen in CD were: epitheloid granuloma, transmural chronic inflammation, absence of mucin depletion, irregular surface, or crypt distortion. 3 cases of UC were found to be associated with dysplasia. UC mucosa contains fewer Bcl-2+ cells compared with CD mucosa. Conclusion: This study using multiple parameters such clinicopathological features and Bcl-2 expression as studied by immunohistochemical stain, helped to gain an accurate differentiation between UC and CD. Furthermore, this work spotted the light on the activity and different grades of UC which could be important for the prediction of relapse.Keywords: Crohn's disease, dysplasia, inflammatory bowel disease, ulcerative colitis
Procedia PDF Downloads 1842 Evaluation of Two DNA Extraction Methods for Minimal Porcine (Pork) Detection in Halal Food Sample Mixture Using Taqman Real-time PCR Technique
Authors: Duaa Mughal, Syeda Areeba Nadeem, Shakil Ahmed, Ishtiaq Ahmed Khan
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The identification of porcine DNA in Halal food items is critical to ensuring compliance with dietary restrictions and religious beliefs. In Islam, Porcine is prohibited as clearly mentioned in Quran (Surah Al-Baqrah, Ayat 173). The purpose of this study was to compare two DNA extraction procedures for detecting 0.001% of porcine DNA in processed Halal food sample mixtures containing chicken, camel, veal, turkey and goat meat using the TaqMan Real-Time PCR technology. In this research, two different commercial kit protocols were compared. The processed sample mixtures were prepared by spiking known concentration of porcine DNA to non-porcine food matrices. Afterwards, TaqMan Real-Time PCR technique was used to target a particular porcine gene from the extracted DNA samples, which was quantified after extraction. The results of the amplification were evaluated for sensitivity, specificity, and reproducibility. The results of the study demonstrated that two DNA extraction techniques can detect 0.01% of porcine DNA in mixture of Halal food samples. However, as compared to the alternative approach, Eurofins| GeneScan GeneSpin DNA Isolation kit showed more effective sensitivity and specificity. Furthermore, the commercial kit-based approach showed great repeatability with minimal variance across repeats. Quantification of DNA was done by using fluorometric assay. In conclusion, the comparison of DNA extraction methods for detecting porcine DNA in Halal food sample mixes using the TaqMan Real-Time PCR technology reveals that the commercial kit-based approach outperforms the other methods in terms of sensitivity, specificity, and repeatability. This research helps to promote the development of reliable and standardized techniques for detecting porcine DNA in Halal food items, religious conformity and assuring nutritional.Keywords: real time PCR (qPCR), DNA extraction, porcine DNA, halal food authentication, religious conformity
Procedia PDF Downloads 691 Prevalence of Cyp2d6 and Its Implications for Personalized Medicine in Saudi Arabs
Authors: Hamsa T. Tayeb, Mohammad A. Arafah, Dana M. Bakheet, Duaa M. Khalaf, Agnieszka Tarnoska, Nduna Dzimiri
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Background: CYP2D6 is a member of the cytochrome P450 mixed-function oxidase system. The enzyme is responsible for the metabolism and elimination of approximately 25% of clinically used drugs, especially in breast cancer and psychiatric therapy. Different phenotypes have been described displaying alleles that lead to a complete loss of enzyme activity, reduced function (poor metabolizers – PM), hyperfunctionality (ultrarapid metabolizers–UM) and therefore drug intoxication or loss of drug effect. The prevalence of these variants may vary among different ethnic groups. Furthermore, the xTAG system has been developed to categorized all patients into different groups based on their CYP2D6 substrate metabolization. Aim of the study: To determine the prevalence of the different CYP2D6 variants in our population, and to evaluate their clinical relevance in personalized medicine. Methodology: We used the Luminex xMAP genotyping system to sequence 305 Saudi individuals visiting the Blood Bank of our Institution and determine which polymorphisms of CYP2D6 gene are prevalent in our region. Results: xTAG genotyping showed that 36.72% (112 out of 305 individuals) carried the CYP2D6_*2. Out of the 112 individuals with the *2 SNP, 6.23% had multiple copies of *2 SNP (19 individuals out of 305 individuals), resulting in an UM phenotype. About 33.44% carried the CYP2D6_*41, which leads to decreased activity of the CYP2D6 enzyme. 19.67% had the wild-type alleles and thus had normal enzyme function. Furthermore, 15.74% carried the CYP2D6_*4, which is the most common nonfunctional form of the CYP2D6 enzyme worldwide. 6.56% carried the CYP2D6_*17, resulting in decreased enzyme activity. Approximately 5.73% carried the CYP2D6_*10, consequently decreasing the enzyme activity, resulting in a PM phenotype. 2.30% carried the CYP2D6_*29, leading to decreased metabolic activity of the enzyme, and 2.30% carried the CYP2D6_*35, resulting in an UM phenotype, 1.64% had a whole-gene deletion CYP2D6_*5, thus resulting in the loss of CYP2D6 enzyme production, 0.66% carried the CYP2D6_*6 variant. One individual carried the CYP2D6_*3(B), producing an inactive form of the enzyme, which leads to decrease of enzyme activity, resulting in a PM phenotype. Finally, one individual carried the CYP2D6_*9, which decreases the enzyme activity. Conclusions: Our study demonstrates that different CYP2D6 variants are highly prevalent in ethnic Saudi Arabs. This finding sets a basis for informed genotyping for these variants in personalized medicine. The study also suggests that xTAG is an appropriate procedure for genotyping the CYP2D6 variants in personalized medicine.Keywords: CYP2D6, hormonal breast cancer, pharmacogenetics, polymorphism, psychiatric treatment, Saudi population
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