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 principal concern of this study is Disjunct and Conjunct adverbials in the
English language. The study sets out to explore and clarify the types, nature and
structure of disjuncts and conjuncts. It also aims at testing student's performance to
evaluate the use and usage of the disjuncts and conjuncts in their written performance.
Two tests, accordingly, were given to some fifty students of at the Dept. of English, at
the college of languages (third and fourth stages) in the University of Sulaimani. The
hypothesis that the study was based on are those students use disjuncts and conjuncts
hardly enough in their writings and when doing so, they generally tend to stick only to
the most commonly used and familiar o
Complexity is the inherent characteristic of contemporary organizations. It is characterized by the intertwining and expansion of its relations, by the severe disorder and rapid change in its environment, which makes it suffer from a state of uncertainty in determining the direction of its future or the assessment of the rules governing its paths. All organizations tend to evolve with increasing sophistication, And to take measures that contribute to the simplification of the system as it moves towards complexity, allowing the administration to easily control its movement and directions, and the problem of complexity in the university is based on the entanglement and overlap in the goals and processes betwe
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... Show MoreAbstract:
The current research is aimed at analyzing the impact of the dimensions of Job involvement of all of (the enthusiasm, the Devotion, Assimilation ) in the Crystallize organizational Identification across the dimensions of (organizational loyalty, membership, similarities) and was named the Middle East, the Iraqi Investment Bank room to look as the research community of staff adopted in the bank, to be applied to a Random sample of (100) employees working in the said bank, and developed for the purposes of data collection, a questionnaire form included three axes covered (32) paragraph of the measure, which is included adopted Liekrt Quintet for the
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