Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. It is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. Elevated white blood cell cystine content is the cornerstone of the diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) is mainly produced by activated macrophages both in normal and inflammatory conditions which suggest that cystinosis should be included within the differential diagnosis of disorders associated with increased plasma chitotriosidase activity. This study is aimed to estimate serum chitotriosidase level, as a screening marker and therapeutic monitor for cystinosis disease in Iraqi children with cystinosis.
Subjects and Methods: The present study is a case-control study that included samples of 30 children with nephropathic cystinosis, compared to 25 healthy control children from those attending at The Genetic Rare Diseases Center / AL-Emamain AL-Kadhimain Teaching Hospital, Baghdad-Iraq.
Results: Our results reported that cystinotic children had a marked elevation of serum chitotriosidase activity, compared to age-matched healthy children, besides a significant associated with leukocyte-cystine content for cystinotic patients.
CHT1 as a Novel Biomarker
Conclusion: Estimation of serum chitotriosidase activity might aid in monitoring the therapeutic benefits of cysteamine therapy, as well as the prognosis of the disease when WBC cystine assessment is not available.
Key Words: Cystinosis, Cysteamine, Chitotriosidase.
Marketing information system (KMIS) is an essential factor of developing business’ performance and getting sustainable success. The main goal of the research is to measure effect of MIS on customer orientation and product innovation. Also, another goal is to analyze the mediation role of product innovation in relationship MIS and customer orientation. This study sought to analyze the marketing information system and measure its effect on the customer orientation and product innovation. The data of the study were collected using questionnaire. The data were analyzed using statistical tools and SPSS programming. The results of the study showed that the KMIS can positively and significantly effect product innovation. Also, t
... Show MoreManufacturing industries are at the beginning of the thinking of those who put economic policies in developed countries and also more in developing countries, where manufacturing is the engine of industrial and economic development through its performance and its effective role in the formation of GDP, as well as the great advantages that characterize this sector and affect Largely on sustainable development, as well as its importance in its influential role in protecting national industry through increased exports and reduced imports.
Iraq is one of the countries that rely on its oil economy to rely entirely on the provision of needs and requirements of the state, and this
... Show MoreIn this paper, customers’ expectations are continually shifting due to the business environment’s growing competition and substantial changes. As a result, organisations no longer viewed it as a static objective but as an ever-evolving aim. From this vantage point, the research has explored the accounting literature in search of novel approaches to addressing the strategic dimensions of quality, cost and time. Getting them to respond positively to the customer’s requests also requires recognising their needs and controlling their impact on these dimensions. With the removal of operations that do not contribute any value to the product’s value chain and a reduction in manufacturing costs through continuous improvement, the ou
... Show MoreIn this paper, the researcher suggested using the Genetic algorithm method to estimate the parameters of the Wiener degradation process, where it is based on the Wiener process in order to estimate the reliability of high-efficiency products, due to the difficulty of estimating the reliability of them using traditional techniques that depend only on the failure times of products. Monte Carlo simulation has been applied for the purpose of proving the efficiency of the proposed method in estimating parameters; it was compared with the method of the maximum likelihood estimation. The results were that the Genetic algorithm method is the best based on the AMSE comparison criterion, then the reliab
... Show MoreDue to the developments taking place in the field of communications, informatics systems and knowledge management in the current century, and the obligations and burdens imposed on the business organization to keep pace with these developments, the traditional methods of administrative decision-making are no longer feasible, as recent trends have emerged in management that focus on the need to rely on quantitative methods such as operations research.. The latter is one of the results of World War II, which appeared for the first time in Britain to manage war operations. The first method used in this field is the linear programming method. The use of operations research has developed greatly in the past years, and the methods of analysis in
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The research aims to identify the nature of the relationship between the level of debt used and economic value added of companies listed on the Iraq Stock Exchange under the Contrast sizes of these companies , The research addressed the theoretical concepts associated with each of the debt financing , economic added value and Organization size With the use of financial techniques in the practical side to measure these variables, The research community Represent of the shareholding companies listed on the Iraq Stock Exchange with a choice of intentionally sample of 24 joint stock companies representing 
... Show Moreعانت الغابات في العراق قصوراً واضحاً في مجال إشباع حاجة السكان لمنتجاتها الرئيسية المتمثلة بالأخشاب ومنتجاتها الثانوية المتمثلة بالأغصان والأوراق والنباتات الطبيعية والحيوانات البرية ونواتجها الأخرى، مما يتطلب التفكير بمحاولة إيجاد سبل جديدة لحل هذه المشكلة الاقتصادية المرتبطة بعنصريها الحاجة للأخشاب والأموال المخصصة لتطويرها عموماً.
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... Show MoreThe impact of digital transformation on the relationship between commercial bank customers’ empowerment and competitive advantage
Background: In this study, the female reproductive system of Columba oenas was examined during the egg laying stage, focusing on its general structure and microscopic characteristics. Methods: Obsessive monitoring operations were performed, as well as different parts of the egg canal, which include infundibulum, magnum, isthmus, uterus and vagina. Result: These parts showed clear anatomical differences, each with special textile features that seem to play distinctive roles related to the growth and movement of eggs. In magnum it was found that the bulk contains clear mucous folds and many secretory glands. The isthmus had a star-shaped lumen and was lined with a false cylindrical epithelium. In the uterus, branching tube glands, ric
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