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.
من الاهمية دراسة التاريخ كونه يمدنا بحلول للمشكلات المعاصرة في ضوء خبرات الماضي، ودراسة سلبيات وايجابيات هذه الحلول، وانطلاقا من مبدأ أن ذوي الإعاقة البصرية طاقة بشرية لابد من استثمارها بما يخدم تقدم وازدهار المجتمع، فمن الأهمية تسليط الضوء على هذه الفئة والإسهام بنقل صورة مشرفة عنها، قد تكون دافعا للآخرين ممن اوقفهم انطفاء شعاع النور والبصيرة عن اكمال حياتهم لشرارة امل تعيد لهم شغفهم في الحياة، وته
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In this work, a test room was built in Baghdad city, with (2*1.5*1.5) m3 in dimensions, while the solar chimneys (SC) were designed with aspect ratio (ar) bigger than 12. Test room was supplied by many solar collectors; vertical single side of air pass with ar equals 25, and tilted 45o double side of air passes with ar equals 50 for each pass, both collectors consist of flat thermal energy storage box collector (TESB) that covered by transparent clear acrylic sheet, third type of collector is array of evacuated tubular collectors with thermosyphon in 45o instelled in the bottom of TESB of vertical SC. The TESB was
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... Show MoreThe research specified with study the relation between the market share for the sample research banks and the amount of the achieved revenues from the investment, where the dominated belief that there potentiality enhancing the revenue on investment with the increase of the banks shares in their markets after their success in achieving rates of successive growth in their sales of sales and to a suitable achieve market coverage for their products and they have dissemination and suitable promotion activity, the market share represented the competition for the banks, and the markets pay attention to the market share as a strategic objective and to maintain them also increasi
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... Show MoreMultiple linear regressions are concerned with studying and analyzing the relationship between the dependent variable and a set of explanatory variables. From this relationship the values of variables are predicted. In this paper the multiple linear regression model and three covariates were studied in the presence of the problem of auto-correlation of errors when the random error distributed the distribution of exponential. Three methods were compared (general least squares, M robust, and Laplace robust method). We have employed the simulation studies and calculated the statistical standard mean squares error with sample sizes (15, 30, 60, 100). Further we applied the best method on the real experiment data representing the varieties of
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Tirzepatide is a revolutionary and promising medication with a high impact in the treatment of Obesity and T2DM with their complications. Its efficacy was proven through different trials in achieving favorable weight loss and a significant reduction in glycemic index. It also treated a large diversity of related co-morbidities, including fatty liver, cardiovascular disease, dyslipidemia, and more. Tirzepatide is well tolerated, has a good safety profile, and is highly reliable and suitable for use in a population.