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.
ABSTRACT: BACKGROUND: Trivial number of books, concerning traditional medicine, had mentioned a galactagogual role of Garden cress seeds. Others ignore that. This controversy, in addition to the steroid (family of sex hormones) contents of the seeds, directed us to evaluate the role of this herb in mammogenesis and lactogenesis. METHODS: Twelve parameters were used to assess the effect of Garden cress seeds on the mammary gland of young adult virgin rats. These parameters comprise gross assessment, histological examination (routine/ haematoxylin and eosin stain and special stain/ PAS), enzymatic histochemical study (alkaline phosphatase, acid phosphatase and lipoprotein lipase cytochemical localization), biochemical estimations (hor
... Show MoreThe present study cognitive aims to investigate the negation phenomenon in American political discourse under Critical Discourse Analysis (CDA) principles. The research sample includes two speeches given by Clinton and Trump in their election campaigns in 2016. Since the nature of the study follows the social-cognitive approach, the researcher adopted two models of analysis to achieve the study’s objectives: First, the theoretical framework of MST (developed by Fauconnier (1994), Fauconnier and Sweetser (1996) to examine meaning construction resulting from building different levels of negative mental spaces by two different genders the selected speeches. Second, pragmatic model to examine the role of gender from the functional per
... 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
... Show MoreThe samples were collected monthly crustaceans Mjmafah foot of two stations in tributary Zab down and two others in the Tigris River for one year with effect from November 2001 until October 2002 recorded during the study period the current 41 units taxonomic and were higher density of Mjmafah foot Guy Tigris River before the mouth of the tributary
In this article, a short review on the feature of reality and locality in quantum optics is given.
The Bell inequality and the Bell states are introduced to show their direct use in quantum computer and
quantum teleportation. Moreover, quantum cryptography is discussed in some details regarding basic
ideas and practical considerations. In addition, a case study involving distillation of a quantum key based
on the given fundamentals is presented and discussed.
Genetic algorithms (GA) are a helpful instrument for planning and controlling the activities of a project. It is based on the technique of survival of the fittest and natural selection. GA has been used in different sectors of construction and building however that is rarely documented. This research aimed to examine the utilisation of genetic algorithms in construction project management. For this purpose, the research focused on the benefits and challenges of genetic algorithms, and the extent to which genetic algorithms is utilised in construction project management. Results showed that GA provides an ability of generating near optimal solutions which can be adopted to reduce complexity in project management and resolve difficult problem
... Show MoreThis 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
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