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.
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A Tempest is analysed to reveal the counter literary strategy used by Aimé Cesaire, and to disclose the reasons why re-writing and writing back are considered as vital and inescapable tasks. Shakespeare’s The Tempest, which deals with the
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The main objective of this work is to propose a new routing protocol for wireless sensor network employed to serve IoT systems. The routing protocol has to adapt with different requirements in order to enhance the performance of IoT applications. The link quality, node depth and energy are used as metrics to make routing decisions. Comparison with other protocols is essential to show the improvements achieved by this work, thus protocols designed to serve the same purpose such as AODV, REL and LABILE are chosen to compare the proposed routing protocol with. To add integrative and holistic, some of important features are added and tested such as actuating and mobility. These features are greatly required by some of IoT applications and im
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... Show MoreDeaf and dumb peoples are suffering difficulties most of the time in communicating with society. They use sign language to communicate with each other and with normal people. But Normal people find it more difficult to understand the sign language and gestures made by deaf and dumb people. Therefore, many techniques have been employed to tackle this problem by converting the sign language to a text or a voice and vice versa. In recent years, research has progressed steadily in regard to the use of computers to recognize and translate the sign language. This paper reviews significant projects in the field beginning with important steps of sign language translation. These projects can b
This research deals with the most famous existing definitions of public relations, in an attempt to achieve a definition that will be added to the other existing and widespread definitions, especially that big developments have taken place in the concept of public relations and their idiomatic use.
In addition, many definitions of public relations have been restricted to some limited descriptions, therefore many of the descriptions given to the public relations are basically definitions as well as characteristics of the public relations.
This research aims at setting and formulating the definitions of public relations, it also deals with its credibility in achieving its significance in order to reach a new definition that
... Show MoreThis study aims to examine how the lives of blacks are reduced and eliminated in Brother (2017) by David Chariandy. Black Lives Matter is a hash tag that appears after the killing of Trayvon Martin (17 years old African American) in 2012 by the savage hands of George Zimmerman (white person). This hash-tag has become a social movement that calls for equality in order to stop the violence against black people because their live is as valuable as white’s. The movement comes into being to highlight the “hypocritical democracy in service to the white males whose freedom are openly depended upon the oppression of blacks” (Lebron, 2017, P. 1). Those who have started this movement try to redeem a state and its arbitrary actions again
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