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.
The ability to inhibit corrosion of low carbon steel in a salt solution (3.5%NaCl) has been checked with three real expired drugs (Cloxacillin, Amoxicillin, Ceflaxin) with variable concentrations (0, 250, 500, 750) mg/L were examined in the weight loss. The inhibition efficiency of the Cloxacillin 750 mg/L showed the highest value (82.8125 %) and the best inhibitor of the rest of the antibiotics. The different concentrations of Cloxacillin drug (0, 250, 500, 750) mg/L and temperature (25, 35, 45, 55) oC were studied as variables with potentiodynamic polarization, Scanning Electron Microscopy (SEM) for surface morphology and electrochemical impedance spectroscopy (EIS) depending on current values and the resistance of charge to
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The current research aims to identify the effectiveness of concept maps in the academic achievement of the art of elegance and fashion for third vocational students. The current research is a quasi-experimental one. The research sample consisted of (74) female students in Al-Saydiyah secondary school for girls, they were divided into two groups: the experimental group and the control group. The following hypothesis was developed: There are no statistically significant differences at the level (0.05) between the average scores of the students who studied the subject using concept maps and the average scores of the students who studied the subject in the traditional method in the post-achievement test. The
... Show MoreThe reality of teaching the Arabic language rules is not satisfactory, as the pedagogical methods used do not help students develop their mental skills, especially critical thinking skills. They are often traditional in terms of teaching students, who are passive, passive, often passive, active, and often active, their listening task, and the teacher's task of narrating facts and judgments. It is a blind simulation student, a dependency on others, and a weak spirit of creativity, innovation, and opinion. The opinions of educators and teachers almost agree on the reasons for students' weakness in learning the rules of Arabic, and that the reason lies in the way of teaching. The difficulty or the ease of the rules of Arabic does not lie in th
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