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.
Renewal is generally considered an urgent requirement of life, and a section of its continuation, because renewal means that life exists and continues, and just as renewal is in life, renewal is in science, and in this research the issue of renewal in the science of interpretation, and showed through research that renewal in This science was an urgent demand throughout the Islamic ages, as the research showed the necessity of renewal in the material of interpretation, its method and methods, and the researcher presented the opinions of schools about renewal in the interpretation of the Noble Qur’an inferred by living models that refer to their owners.
Media and communication's research are varied in accordance to research approaches' variety which seeks to reach convergent social, psychological, political, economic, and technical point of views. Its main aim is to assimilate all the new variables in the communicative method, especially, social media sites research; concerning their methodology, tools and theories. It is due to their diverse - developed applications and their increased rates of public use becoming irreplaceable in our daily life. It is well reflected by their consequent impact on the the public beside their role in changing its views.
This clarifies the notable increase of scientific research that concern them manifesting the dialectical relations and interfere
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Our study focused on lower modes, the results for the transmission coefficient are then used to
Human skin detection, which usually performed before image processing, is the method of discovering skin-colored pixels and regions that may be of human faces or limbs in videos or photos. Many computer vision approaches have been developed for skin detection. A skin detector usually transforms a given pixel into a suitable color space and then uses a skin classifier to mark the pixel as a skin or a non-skin pixel. A skin classifier explains the decision boundary of the class of a skin color in the color space based on skin-colored pixels. The purpose of this research is to build a skin detection system that will distinguish between skin and non-skin pixels in colored still pictures. This performed by introducing a metric that measu
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The study revealed the existence of statistically significant diff
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