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.
The technology of subsurface soil water retention (SWRT) uses a polyethylene trough that is fixed under the root zone of the plant. It is a modern technology to increase the values of water use efficiency, plant productivity and saving irrigation water by applying as little irrigation water as possible. This study work aims at improving the crop yield and water use efficiency of a cucumber plant with less applied irrigation water by installing membrane trough below the soil surface. The field experiment was conducted in the Hawr Rajab District of Baghdad Governorate in Winter 2018 for testing various trickle irrigation systems. Two agricultural treatment plots were utilized in a greenhouse for the compa
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The aim of this research to try to determine the type of expected relationship between inflation as the explanatory variable and market performance as a dependent variable, for that used data issued and published by the Central Bank of Iraq and the Iraqi Stock Exchange for a sample consisting of (159) observations using the intentional or intentional sampling method for the period extending between the months (January 2010 to March 2023), in the light of each of the Consumer Price Index (CPI), the Iraqi Stock Exchange Index, the number of traded shares and the number of market capital shares to ex
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The aim of the study is preparing stable oral oil in water (o/w) nanoemulsion of isradipine to promote the colloidial dispersion of isradipine in the nano range, so that it may be absorded by intestinal lymphatic transport in order to avoid hepatic first-pass metabolism (israpidi
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