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.
Research summary
Backbiting pronouns have gained great importance in contemporary textual linguistic studies, as they play a coordinating function in the text and link its parts.
Interpreters did not overlook the role of backbiting pronouns in achieving the function of consistency and coherence in the Qur’anic text, as they referred to this, including Ibn Ashour, who had many analytical practices related to referral issues and their complexities. The Qur'anic reference to the pronouns of backbiting, so the researcher traced these phenomena and their evidence in the Holy Qur'an, aiming to clarify their role in enriching the significance and in the coherence and harmony
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Due to its negative implication, racism lends itself to a critical kind of research. As such, this paper is a critical pragmatic investigation for this phenomenon a
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As for the introduction: It was to indicate the importance of the topic and an optional reason for it.
As for the first requirement: it included the definition of reasoning, its divisions, and its characteristics.
As for the second requirement, it was to indicate the meaning, types, and methods of labeling it.
As for the third require
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