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.
Learn new methods of teaching mathematics contribute to raising the level of pupils to acquire mathematical concepts primary stage
Attempt advancement in the level of mathematics teaching for the better through the use of modern teaching strategies. The research aims at the progress in the acquisition of mathematical concepts schoolgirls after subjecting the fourth grade to teach in active learning strategies, the number of research sample (60) schoolgirl, by (30) schoolgirl experimental group and 30 pupils of the control group. Clear from the results shown the presence of a statistically significant difference between the acquisition of concepts of schoolgirls two groups (experimental and control) for the benefit of pupils of the exp
One of the most important virulence factors in Pseudomonas aeruginosa is biofilm formation, as it works as a barrier for entering antibiotics into the bacterial cell. Different environmental and nutritional conditions were used to optimize biofilm formation using microtitre plate assay by P. aeruginosa. The low nutrient level of the medium represented by tryptic soy broth (TSB) was better in biofilm formation than the high nutrient level of the medium with Luria Broth (LB). The optimized condition for biofilm production at room temperature (25 °C) is better than at host temperature (37 °C). Moreover, the staining with 0.1% crystal violet and reading the biofilm with wavelength 360 are considered essential factors in
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... Show MoreObjective(s): assessment of the health follow up and weight control for women with osteoporosis and find out the relationship between their health follow up and weight control and their socio-demographic characteristics.
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... Show MoreVideo streaming is widely available nowadays. Moreover, since the pandemic hit all across the globe, many people stayed home and used streaming services for news, education, and entertainment. However, when streaming in session, user Quality of Experience (QoE) is unsatisfied with the video content selection while streaming on smartphone devices. Users are often irritated by unpredictable video quality format displays on their smartphone devices. In this paper, we proposed a framework video selection scheme that targets to increase QoE user satisfaction. We used a video content selection algorithm to map the video selection that satisfies the user the most regarding streaming quality. Video Content Selection (VCS) are classified in
... Show MoreThe control of prostheses and their complexities is one of the greatest challenges limiting wide amputees’ use of upper limb prostheses. The main challenges include the difficulty of extracting signals for controlling the prostheses, limited number of degrees of freedom (DoF), and cost-prohibitive for complex controlling systems. In this study, a real-time hybrid control system, based on electromyography (EMG) and voice commands (VC) is designed to render the prosthesis more dexterous with the ability to accomplish amputee’s daily activities proficiently. The voice and EMG systems were combined in three proposed hybrid strategies, each strategy had different number of movements depending on the combination protocol between voic
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