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.
This study focuses on the impact of technology on creating a dystopian world as presented by the English playwright Caryl Churchill in her play A Number (2002). This dramatic work came as a reaction to the most crucial and valuable turning point in the scientific achievements of human engineering, namely, the cloning of the sheep called Dolly. Therefore, A Number is a play that presents an analytical stage for imagining the biotechnological and scientific future. This dramatic vignette captures the playwright’s fears towards the abnormal progress of technology and science and how far such technological progress affects human relationships and identity. It also portrays how technological progress results in the feeling of a lack of
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... Show MoreThe objectives of this study revolve around identifying the extent of funding impact on the future of the printed Iraqi press, and whether it threatens their chances of survival, stating the extent of technological development on the income of the printed newspaper, and identifying the causes of the financial crisis on the newspaper.
This research is classified as descriptive research, and the researcher used the survey method, and adopted the questionnaire of the views of the contactors, in five Iraqi newspapers (morning - extent - time - the way of the people - the call).
The research community included (68) respondents, whereby the comprehensive inventory method was used to define the research community, and the researcher used