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 this work we prepared some schiff bases by condensation urea and benzaldehyde or its derevative ( bromo benzaldehyde or hydroxy benzaldehyde ) as ( 1 : 1 ) mole ( urea : benzaldehyde or its substitution ) to prepare compounds ( A1 , B1 , C1 , D1 , E1 , F1 , G1 ) and ( 1 : 2 ) mole ( urea : benzaldehyde or its substitution ) to prepare compounds ( A2 , B2 , C2 , D2 , E1 , F2 , G2 ) . The prepared compounds identified spectroscopic by infrared spectroscopy FT-IR and Thin layer chromotography T.L.C . The force constant calculated from the wave number for the carbonyl stretching from FT-IR chart and by using the following equation K = 4?2C2?'2? The change in double bond order for carbonyl deteremined in according with some past re
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The article describes the basic principles of modeling a dictionary article in the “Dictionary of the Language of Russian Folklore Lexicon epics” (M. A. Bobunova, A. T. Khrolenko). Among such principles are the principle of linguocentrism (representation of universal cognitions in strict observance of the traditions of lexicographic science), the principle of anthropocentrism (language learning as a means of human consciousness / subconsciousness), the principle of expansionism (attracting material from various knowledge bases), the principle of explanatory ("explanatory moment"), and fractal principle (synergistic potential of the presented material: nonlinearity and self-similarity; hierarchical organizati
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... Show MoreThis research aims at calculating the optimum cutting condition for various types of machining methods, assisted by computers, (the computer program in this research is designed to solve linear programs; the program is written in v. basic language). The program obtains the results automatically, this occur through entering the preliminary information about the work piece and the operating condition, the program makes the calculation actually by solving a group of experimental relations, depending on the type of machining method (turning, milling, drilling). The program was transferred to package and group of windows to facilitate the use; it will automatically print the initial input and optimal solution, and thus reduce the effort and t
... Show MoreObjective(s):To evaluate the quality of life among secondary and to find out the relationship between students'quality of life and their socio-demographic characteristics of age, gender, residence, marital status, father's and mother's education, and family financial status in Kirkuk City. Methodology: A cross-sectional study is conducted on (100) studentwho are boys and girls aged(13 to 24) years old. These subjects are studying at secondary schools in Kirkuk City.The study is carried out at secondary schools in Kirkuk City from 7th July 7th 2014 to May 7th 2015. A questionnaire is constructed for the purpose
The derivatives formed after the successive acetylation, esterification and nitration reactions to cholic, deoxycholic, and taurocholic acids were identified to be of the following general strucure: Colt, Where RI=NO3, OH, 0=, or CH3COO. R2=H, NO3, OH, 0-=, or CH3COO. R3=H, NO3,01-1, 0=, or CH3COO. R4=OH, NH(CH2)2S03Na, NH(CH2)2S03H, or OMe. By using U.V-visible and I.R spectrophotometry . The number of hydroxyl groups was determined, purity was checked from T.L.C, Most of these derivatives will find pharmaceutical application.