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.
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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Buildings such as malls, offices, airports and hospitals nowadays have become very complicated which increases the need for a solution that helps people to find their locations in these buildings. GPS or cell signals are commonly used for positioning in an outdoor environment and are not accurate in indoor environment. Smartphones are becoming a common presence in our daily life, also the existing infrastructure, the Wi-Fi access points, which is commonly available in most buildings, has motivated this work to build hybrid mechanism that combines the APs fingerprint together with smartphone barometer sensor readings, to accurately determine the user position inside building floor relative to well-known lan
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(( هُوَ الَّذِي بَعَثَ فِي الْأُمِّيِّينَ رَسُولًا مِّنْهُمْ يَتْلُو عَلَيْهِمْ آيَاتِهِ وَيُزَكِّيهِمْ وَيُعَلِّمُهُمُ الْكِتَابَ وَالْحِكْمَةَ وَإِن كَانُوا مِن قَبْلُ لَفِي ضَلَالٍ مُّبِينٍ)) Jumaa verse /38
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... Show MoreThe current research aims to determine the impact of the cognitive reconstruction program on the development of psychological hardness among middle school students through the experimental verification of three hypotheses. The research sample consisted of (16) out of (450) students selected from Ibn Rushud preparatory school- Al-Rusafa 2. These participants have been randomly distributed into two equal groups. The researcher has used the method of cognitive reconstruction with the experimental group, whereas with the controlling group, he used nothing. The researcher has further used the scale of psychological hardness of Kobassa with the participants; the scale has been built in a way that suits the sample of the study, which consisted
... Show MoreResearchers dream of developing autonomous humanoid robots which behave/walk like a human being. Biped robots, although complex, have the greatest potential for use in human-centred environments such as the home or office. Studying biped robots is also important for understanding human locomotion and improving control strategies for prosthetic and orthotic limbs. Control systems of humans walking in cluttered environments are complex, however, and may involve multiple local controllers and commands from the cerebellum. Although biped robots have been of interest over the last four decades, no unified stability/balance criterion adopted for stabilization of miscellaneous walking/running modes of biped
The 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 MoreIn current article an easy and selective method is proposed for spectrophotometric estimation of metoclopramide (MCP) in pharmaceutical preparations using cloud point extraction (CPE) procedure. The method involved reaction between MCP with 1-Naphthol in alkali conditions using Triton X-114 to form a stable dark purple dye. The Beer’s law limit in the range 0.34-9 μg mL-1 of MCP with r =0.9959 (n=3) after optimization. The relative standard deviation (RSD) and percentage recoveries were 0.89 %, and (96.99–104.11%) respectively. As well, using surfactant cloud point extraction as a method to extract MCP was reinforced the extinction coefficient(ε) to 1.7333×105L/mol.cm in surfactant-rich phase. The small volume of organi
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