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.
Blood samples of One hundred and twenty patients from different hospitals in Baghdad infected with hydatidosis in different sites of the body (Liver, Lung, multiorgans and kidney) were collected for this study. On the other hand, 30 healthy individuals were included as a control group. This study was conducted to evaluate the effect of this disease on the serum protein profile of the patients using electrophoresis. The results revealed four different protein banding patterns with difference in number of bands and their molecular weights in comparison to the control group, and these differences depended on the site of infection. However the data showed a presence of the same band in all patients with different site of infection.
Childhood is characterized by ahigh privacy in the life of the child overall educational institutions in the world. Based on this specificity, modern education begins with a holistic vision of the child through all developmental aspects (moral, religious, emotional, social, linguistic, physical, health, and mental). This integration could be achieved through taking into consideration the needs and rights of children and developing curricula that consider these needs and capacities to provide opportunities for developing and supporting the developmental aspects of the child. The contemporary technological developments in the field of computer and the Internet have brought with it new forms, ideas, and problems for children in recent years
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The Bayesian forecasting approach, based on population PK/PD models that account for variability in exposure and response, is a potent method for personalising drug therapy. Its potential utility is eve
This study aims to identify the anxiety pregnant women have of dying, in the light of some Demographic variables in Bethlehem (age, residence, and the mother's job). The descriptive method was used in this study. To achieve the study purposes, the researchers developed a questionnaire as a tool of study, which consisted of (19) paragraphs ,after been verified of its validity & stability.
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