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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تعتبر شبكية العين جزءًا مهمًا من العين لأن الأطباء يستخدمون صورها لتشخيص العديد من أمراض العيون مثل الجلوكوما واعتلال الشبكية السكري وإعتام عدسة العين. في الواقع، يعد تصوير الشبكية المجزأ أداة قوية للكشف عن النمو غير العادي في منطقة العين بالإضافة إلى تحديد حجم وبنية القرص البصري. يمكن أن يؤدي الجلوكوما إلى إتلاف القرص البصري، مما يغير مظهر القرص البصري للعين. تعمل تقنيتنا على الكشف عن الجلوكوما وتصنيفه
... Show MoreImpressed current cathodic protection controlled by computer gives the ideal solution to the changes in environmental factors and long term coating degradation. The protection potential distribution achieved and the current demand on the anode can be regulated to protection criteria, to achieve the effective protection for the system.
In this paper, cathodic protection problem of above ground steel storage tank was investigated by an impressed current of cathodic protection with controlled potential of electrical system to manage the variation in soil resistivity. Corrosion controller has been implemented for above ground tank in LabView where tank's bottom potential to soil was manipulated to the desired set poi
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... Show MoreDo’a and Zikr al-Mā’thur (authentic supplications and remembrance of ALLAH ‘Azza wa Jalla) can be suggested to Muslims to help them deal with challenges or issues in life. Counselling cases affect a person’s feelings. Do’a and Zikr al-Mā’thur are often applied as a counselling intervention. Unfortunately, the authentic Do’a and Zikr al-Mā’thur are dispersed in many resources not visible to users, and the fact that not all online resources offer access to accurate Do’a and Zikr al-Mā’thur to users and the dubious Do’a and Zikr al-Mā’thur frequently credited to the Prophet (pbuh). The goal of this research is to develop an ontology
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