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.
To assess the use of miniaturized percutaneous nephrolithotomy (mini-PCNL) for renal stones in children, as well as its safety and efficacy. Seventy-seven patients with more than 15 mm renal stones whose age was less than 15 years were enrolled in this prospective case-controlled study at Al-Ramadi Teaching Hospital, Ar Razi Private Hospital, and Ghazi Al-Hariri Hospital for Surgical Specialties, Anbar and Baghdad, Iraq. The study was conducted from January 2020 to January 2024. The group mentioned above served as group A, and it was compared to the control group (group B), which consisted of 70 adult patients aged 18–60 years. Patients in both groups underwent mini-PCNL. Gender, stone size and location, time of operation, stone-free rate
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The application functions of the standard production of benefit critical to clarify the actual relationship between production & its components, & allow to clarify the i
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The goal of this study is to know the role these series played in affecting the behavior and attitudes of Iraqi people and how it can change their morals.
The research ends with the number of results like the negative effect of these series on the
The research is concerned with the problems of knowledge purification of kindergarten children by verifying its aims, identifying of knowledge purification among the first level of kindergarten children and the second level of kindergarten children, and the differences between the males and females in the variable of knowledge purification. The research community included the children in the state and private kindergartens in Baghdad governorate, on its two sides, Karkh and Rusafa, for the six districts for the academic year 2022-2023. After making the knowledge purification test according to the scientific steps of test constructions, the test has been presented to a group of experts specialized in the field of kindergarten to ascertain
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Abstract
The net profit reported in the annual financial statements of the companies listed in the financial markets, is considered one of the Sources of information relied upon by users of accounting information in making their investment decisions. At the same time be relied upon in calculating the bonus (Incentives) granted to management, therefore the management of companies to manipulate those numbers in order to increase those bonuses associated to earnings, This practices are called earnings management practices. the manipulation in the figures of earnings by management will mislead the users of financial statements who depend on reported earnings in their deci
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