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.
Before the start of delivery, any membranes rupture could be named as a premature rupture of membranes (PROM), which may need special obstetrical interactions to minimize perinatal complications, it is important topromptly diagnose PROM, the method used should be accurate, cheap, simple, and widely available. This was exactly the idea behind this study to use an ordinary pregnancy test kit aiming to confirm presence of PROM.Over a 6 months’ period, 60 pregnant women with a history of leaking liquor and a positive speculum examination for amniotic fluid pooling were collected prospectively and compared with other 60 women (control group) with uneventful pregnancy. Majority of patients with positive leaking liquor signs and symptoms had a p
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The objective of this work is to study time reduction by combining multiple sequences of operations into one process. To carry out this work, the pneumatic system is designed to decrease\ increase the time of the sequence that performs a pick and place process through optimizing the sequences based on the obstacle dimensions. Three axes are represented using pneumatic cylinders that move according to the sequence used. The system is implemented and con
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... Show MoreThis paper aims to study the damage generated due to creep-fatigue interaction behaviors in solid polyamide 6,6 and its composites that include 1%wt of carbon nanotubes or 30% wt short carbon fiber prepared by an injection technique. The investigation also includes studying the influence of applied temperatures higher than the glass transition temperatures on mechanical properties. The obtained results showed that the addition of reinforcement materials increased all the mechanical properties, while the increase in test temperature reduced all mechanical properties, especially for polyamide 6,6. The creep-fatigue interaction resistance also improved due to the addition of reinforcement materials by inc
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... Show MoreThe moisture sorption isotherms of Mefenamic acid tablets were investigated by measuring the experimental equilibrium moisture content (EMC) using the static method of saturated salt solutions at three temperatures (25, 35, and 45°C) and water activity range from 0.056 to 0.8434. The results showed that EMC increased when relative humidity increased and the sorption capacity decreased, the tablets became less hygroscopic and more stable when the temperature increased at constant water activity. The sorption curves had a sigmoid shape, type II according to Brunauer’s classification. The hysteresis effect was significant along with the whole sorption process. The results were fitted to three models: Oswin, Smith, and Guggen
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Authority is concerned with measuring the confidence of customers in the content of the site, and in the organization as a whole. Validity is related to measuring the effectiveness of employing the site’s content to achieve the goal of its creation and in communicating with customers. Availability It is for measuring the ease of use of the site. The relevance, which means
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The tracking and steady state performances of both controllers have been assessed fo
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