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.
During the two last decades ago, audio compression becomes the topic of many types of research due to the importance of this field which reflecting on the storage capacity and the transmission requirement. The rapid development of the computer industry increases the demand for audio data with high quality and accordingly, there is great importance for the development of audio compression technologies, lossy and lossless are the two categories of compression. This paper aims to review the techniques of the lossy audio compression methods, summarize the importance and the uses of each method.
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 MoreZainab M. Al-Bahrani Department of Oral Diagnosis, College of Dentistry, University of Baghdad, Baghdad, Iraq.Corresponding author: Zainab M. Al-Bahra...
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... Show MoreThis study deals with strategic maneuvering in advertisement from a pragmatic point of view found in some commercial advertisements in order to investigate and analyze the pragmatic devices that are used in the strategic maneuvering and stages. The study attempts to shed light on the most fuzzy areas in advertisements that is probably how the language of advertisements employed by advertisers to affect consumers positively. The primary goal of strategic maneuvering is to discover how the pragmatic devices have persuasive techniques that are used to gain a competitive advantage and more sales. This study is a contribution to the field of research in the language used in advertising. In this research, the effectiveness of strategic man
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