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 the present study, MIG welding is carried out on low carbon steel type (AISI 1015) by using electrode ER308L of 1.5mm diameter with direct current straight polarity (DCSP). The joint geometry is of a single V-butt joint with one pass welding stroke for different plate thicknesses of 6, 8, and 10 mm. In welding experiments, AISI 1015 plates with dimensions of 200×100mm and edge angle of 60o from both sides are utilized. In this work, three main parameters related to MIG welding process are investigated, which are welding current, welding speed, heat input and plate thickness, and to achieve that three groups of plates are employed each one consists of three plates. The results indicate that increasing the weld heat input (t
... Show MoreIn this research prepare membranes pure silicon carbide (SiC) as well as gas Alloy (ammonia) and using a laser was leaked membrane of glass flooring. To Drasesh optical properties of membranes prepared depending on the technique (Swanepoel) and Adhrt results obtained in general increased permeability pure silicon membranes
ABSTRACT The role of specific amino acids namely cysteine, methionine, threonine and asparagine in the protection provided by vamin solution against B-lactam inhibition to E. coli was evaluated in vitro. In minimal medium, Cells were treated with 32 ug/ml of penicillin G, carbencillin, hostacillin, cloxacillin and cephalotin in the presence of specific amino acid supplementations. Deletion of specific amino acids from the media abolished the protection provided by vamin. Threonine was essential for the protection of cells against all tested antibiotics, while cysteine was essential for protection against carbencillin and cephalotin Deletion of methionine or asparagine abolished the protec- tion against carbencillin and to a less extent ce
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The purpose of the research is to identify the role of drinking water quality in achieving customer satisfaction in one of the formations of the Ministry of Construction, Housing and Public Municipalities (Diwaniyah Water Directorate), as they are important service organizations that have a fundamental role in serving the community. Faced many administrative challenges, as a result of the continuous and accelerating environmental changes, environmental pollution and immaturity of social awareness and social responsibility, as these contributed to and affected the quality of drinking water, Therefore, it is necessary to know the role of quality, specifically "drinking water and its effect o
... Show MoreThis study conducts a systematic comparative critical discourse analysis of news reports from prominent American (CNN) and Russian (RT) media sources covering the Russia-Ukraine conflict. Utilizing the theoretical frameworks of Norman Fairclough's multidimensional model and Teun van Dijk's socio-cognitive approach, the research examines the underlying ideological assumptions and discursive strategies employed by the two contrasting news channels. Quantitative analysis of discursive techniques and linguistic features provides insights into how each channel selectively utilizes language to convey distinct ideological positions. The findings demonstrate how media discourse constructs and normalizes particular ideological representations of pol
... Show MoreThe morphometric parameters of Acinopus (Acinopus) laevigatus Ménétriés, 1832 (Coleoptera, Carabidae) were studied and their altitudinal variability was assessed. The length of head is the most variable, and the smallest value of the coefficient of variation is observed for the width of elytra. The length of body parts (head, pronotum, elytra) were more variable compared to their width. The correlation relationship between the morphometric parameters of different parts of the body was analyzed. A high correlation was found between the elytra length (EL) and the total body length (BL) (r=0.93), and the lowest correlation was found between the elytra width (EW) and the pronotum length (PL) (r=0.57). According to all measurement indicato
... Show MoreThe pure and Sb doped GeSe thin films have been prepared by thermal flash evaporation technique. Both the structural and optical measurement were carried out for as deposited and annealed films at different annealing temperatures.XRD spectra revealed that the all films have one significant broad amorphous peak except for pure GeSe thin film which annealed at 573 K, it has sharp peak belong to orthorhombic structure nearly at 2θ=33o . The results of the optical studies showed that the optical transition is direct and indirect allowed. The energy gap in general increased with increasing annealing temperature and decreased with increase the ratio of Sb dopant. The optical parameters such as refractive index, extinction coefficient and r
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