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.
In this study, active knife and fixed knife of single-row disc silage machine has three different clearance C1, C2 and C3 (1, 3 and 5 mm) and it is tried in three different working speed V1, V2 and V3 (1.8, 2.5 and 3.7 km / h) and PTO speed (540 min-1) and machine's fuel consumption (l/h), average power consumption (kW), field energy consumption (kW/da), product energy consumption (kW/t), field working capacity (da/h), product working capacity (t/h) and Chopping size distribution characteristics of the fragmented material were determined. It has been found that knife-counter knife clearances smaller than 3 mm (1 mm) and larger (5 mm) have a negative effect on machine performance in general. In terms of fuel and power consumptions, the m
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Increased epidemic when Akbari in his book Explanation in the expression of the Koran
The present study aims at finding out the (effect of the Caroll’s pattern on the second intermediate class pupils' achievement in geography)
The partial experimental design of two groups, experimental and control, with pre-post tests is used. The sample is represented in (74) female pupils. The sample is divided into two groups (38) experimental group and (36) control one. The sample is selected from first intermediate class pupils ( Am Salama Secondary School for girls) \ Baghdad\ Al-karkh-1, for academic year 2015-2016.
The researcher has equalized the two groups in several variables: the previous achievement tests, intelligence, age in months, the scor
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