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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In recent years, the demand for air travel has increased and many people have traveled by plane. Most passengers, however, feel stressed due to the limited cabin space. In order to make these passengers more comfortable, a personal air-conditioning system for the entire chair is needed. This is because the human body experiences discomfort from localized heating or cooling, and thus, it is necessary to provide appropriate airflow to each part of the body. In this paper, a personal air-conditioning system, which consists of six vertically installed air-conditioning vents, will be proposed. To clarify the setting temperature of each vent, the airflow around the passenger and the operative temperature of each part of the body is investigate
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Under cyclic loading, aluminum alloys exhibit less fatigue life than steel alloys of similar strength and this is considered as Achilles's heel of such alloys. A nanosecond fiber laser was used to apply high speed laser shock peening process on thin aluminum plates in order to enhance the fatigue life by introducing compressive residual stresses. The effect of three working parameters namely the pulse repetition rate (PRR), spot size (ω) and scanning speed (v) on limiting the fatigue failure was investigated. The optimum results, represented by the longer fatigue life, were at PRR of 22.5 kHz, ω of 0.04 mm and at both v's of 200 and 500 mm/sec. The research yielded significant results represented by a maximum percentage increase in the fa
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