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.
The amicus curiae is one of the judicial procedures adopted in many judicial and legal systems around the world, under which a person who is not a party to the case, and without having a personal and direct interest in it, intervenes to draw the court’s attention to many factual and legal aspects
Writing as a female playwright in theatre gives a deeper depiction of woman’s real- self. Beth Henley has succeeded in providing a new realist vision of women’s abilities to face their inevitable tragic fates and how to conquer their despair. In Crimes of the Heart, the playwright uses certain method to present the development of the heroines’ characters through blending the tragic events with a comic frame. In fact, Henley focuses on the simple humorous activities more that the importance of the tragic event to present her vision of how to survive and face the crisis of life.
Crimes of the Heart is a play that is concerned about three sisters whose lives are headed in distinctly different directions; howe
... Show MoreThis research deals with the audio part of the cinematic film, which is the sound and its elements inside the space of the cinema picture. It also deals with the psychological side of the sound and the effects made by the sound on the audience through the carefully studied use of the film maker in employing the sound and the picture. For the importance of this element, most of the directors were aware of the seriousness that sound causes to the cinematography, and consequently working as a whole such as the indications, meanings, symbols, metaphors ,transitions…etc. The research included the methodological framework which consists of the research problem, in which the researcher ma
... Show MoreThe post-Corona Covid-19 world is not the world before it, the problem of perception of personality traits with two axes: the characteristics of psychological and social compatibility, and the second aspect the mental disorder during the pandemic, and the accompanying precautions and prohibitions during the academic year 2020 AD. The aim of the research is to reveal the perception of the personal characteristics of Bisha University employees (students and faculty) during the Corona Covid-19 pandemic, and to reveal statistically significant differences in the perception of the personality traits of Bisha’s members during the Covid 19 according to the scientific qualification variables (female students -faculty members), marital st
... Show MoreThis research investigates the impact of varying concentrations of silver oxide on the structure and morphology of phosphate bioactive glass (PBG). PBGs are gaining popularity as a potential replacement for traditional silicate glasses in biomedical applications due to their adjustable chemical resistance and exceptional bioactivity. Upon examination of the scanning electron microscope of the composites without Ag2O, it was observed that the grains tended to merge together, and the surface particles appeared to be larger than those in composites with Ag2O at concentrations of 0.25, 0.5, and 0.75 wt%. The study found that the diffraction pattern of phosphate bioactive glass composites sintered without Ag2O showed the presence of Stro
... Show MoreSamples of marsh frog included 148 sexually mature males were collected in Baghdad
from December 1992 to December 1993 to December 1993. The testis weight was expressed
as percentage of the body weight. The percent mean weights of testis were at their minimal
weight (0.255%) during April (spawning period).
Testis weight has increased until reached its greatest average weight in August (0.785%).
During the winter there is a slight decrease in weight with a more obvious fall at the spawning
months. From the results obtained from the present work on Rana ridibunda and from the
observations on annual cycle in testis weight of some temperate zone anurans we notice that
testes tend to be lowest after spawning and the te
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This study aims to identify how the Zakat Fund contributes to financing entrepreneurial projects; and the role that these projects play in achieving economic and social development, despite the importance that contracting projects have in most countries as the main engine of growth; however, they still face many challenges that In the forefront of which is the challenge of obtaining financing; in this regard, it is possible to resort to the use of Zakat funds in the Islamic economy as it is a funding source that is closely proportional to the characteristics and goals of entrepreneurial projects in achieving development;
 
... Show MoreThe commercial job is one of the most important businesses in the cities as there is no city can exist without commercial markets to offer service to its inhabitants. This study aims to distribute the commercial function in Abu Tayara Street located in the municipality of Al-Dora by highlighting the size of such businesses in this street. It focuses on analyzing the change that has occurred due to the usages of the commercial land not only in the residential areas, but also in various aspects associated with the growth of the population in the city. Both expansion and development of the economic and social aspects in the area have increased the demand for commercial services. So, the research focuses on the aspects of functional speciali
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