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.
Construction is a complicated process that takes place in an almost uncontrollable environment. Although projects can be carefully planned in advance in principle, there is a chance that unforeseen events and crises can disrupt these plans, affecting project development. Because the initial investment expenditures in construction projects are so large, they may be quickly influenced by crises, resulting in significant financial losses. The 2014 financial crisis was one of the most prominent crises that Iraq faced, which significantly impacted various activities in general and the construction industry in particular. Despite the importance of crisis management systems, the researchers found a great lack of local studies looking at cr
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Surface modeling utilizing Bezier technique is one of the more important tool in computer aided geometric design (CAD). The aim of this work is to design and implement multi-patches Bezier free-form surface. The technique has an effective contribution in technology domains and in ships, aircrafts, and cars industry, moreover for its wide utilization in making the molds. This work is includes the synthesis of these patches in a method that is allow the participation of these control point for the merge of the patches, and the confluence of patches at similar degree sides due to degree variation per patch. The model has been implemented to represent the surface. The interior data of the desired surfaces designed by M
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Capillary pressure is a significant parameter in characterizing and modeling petroleum reservoirs. However, costly laboratory measurements may not be sufficiently available in some cases. The problem amplifies for carbonate reservoirs because relatively enormous capillary pressure curves are required for reservoir study due to heterogeneity. In this work, the laboratory measurements of capillary pressure and formation resistivity index were correlated as both parameters are functions of saturation. Forty-one core samples from an Iraqi carbonate reservoir were used to develop the correlation according to the hydraulic flow units concept. Flow zone indicator (FZI) and Pore Geometry and Structure (PGS) approaches were used to identify
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In this paper the guarantee of positive definite and symmetric property for the Hessian matrix will be established by updating the vector which represents the difference between the next gradient and the current gradient of the objective function assumed to be twice continuous and differentiable .Numerical results are reported to compare the proposed method with the Broyden method under standard problems.