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.
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Reishi Mushroom, Ganoderma, is considered one of important wood-decaying medicinal mushrooms. This study aimed to identify three samples of this genus in Mosul city in February and April 2019. Three species of Ganoderma were collected from three various trees including Eucalyptus, Morus, and Olea (olive) in Mosul City, Northern Iraq. Their identifications and their DNA sequences were genetically identified by using PCR techniques according to detect nuclear ribosomal internal transcribed spacer (ITS) regions. Results exhibited the finding of Ganoderma resinaceum, Ganoderma applanatum, and Ganoderma sp. This study is first attempt to identify Reishi Mushroom by molecular methods in Iraq. Thus, the current study is considered new good d
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... Show MoreAcromegaly is ametabolic disorder characterized by an acquired progressive somatic disfigurement, mainly involving the face, extremities and many other organs, that are associated with systemic manifestations, caused by excessive secretion of growth hormone and a resultant persistent elevation of insulin-like growth factor-I concentrations. In more than 90% of cases originates from a monoclonal benign pituitary adenoma. Aim of this study to assess the level of insulin-like growth factor-I (IGF-I) in saliva of acromegalic patients, and to compare it with the basal levels of serum IGF-I. Sixty specimens of serum and saliva collected from two groups of subjects (forty acromegalic patients and twenty healthy persons). The specimens were
... Show MoreThe increase of the scenographic designer role on account of the character of the director in the Iraqi theater constituted a clear phenomenon that has been manifested in many shows, which necessitated a stance on the nature of this relation and delimiting the work space for each one of them inside the theater show. The research focuses on determining the work relation between the directorial vision and the scenographic proposal in the Iraq theater show. The research is divided into four chapters, the first one addressed the methodological framework, where the research problem was stated in the following question (has the scenographic designer been able through his scenographic proposal to remove the director from his position being the
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