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.
Abstract
The aim of this work is to create a power control system for wind turbines based on fuzzy logic. Three power control loop was considered including: changing the pitch angle of the blade, changing the length of the blade and turning the nacelle. The stochastic law was given for changes and instant inaccurate assessment of wind conditions changes. Two different algorithms were used for fuzzy inference in the control loop, the Mamdani and Larsen algorithms. These two different algorithms are materialized and developed in this study in Matlab-Fuzzy logic toolbox which has been practically implemented using necessary intelligent control system in electrical engineerin
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... Show MoreDeep beams are used in wide construction fields such as water tanks, foundations, and girders in multi-story buildings to provide certain areas free of columns. In practice it is quite often occurring to create web opening in deep beams to supply convenient passage of ventilation ducts, cable channels, gas and water pipes. Experimental studies of ten 10 deep beams were carried out, where two of them are control specimens without openings and eight with large web openings in the shear spans. The variables that have been adopted are the ratio of the shear span to the overall depth of the member cross-section, location and dimensions of the opening. Test results showed that there was a decrease in the load carrying capacity of deep bea
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