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.
Maximum likelihood estimation method, uniformly minimum variance unbiased estimation method and minimum mean square error estimation, as classical estimation procedures, are frequently used for parameter estimation in statistics, which assuming the parameter is constant , while Bayes method assuming the parameter is random variable and hence the Bayes estimator is an estimator which minimize the Bayes risk for each value the random observable and for square error lose function the Bayes estimator is the posterior mean. It is well known that the Bayesian estimation is hardly used as a parameter estimation technique due to some difficulties to finding a prior distribution.
The interest of this paper is that
... Show MoreBioaccumulation of heavy metals in the terrestrial invertebrates in Al-Jadriyia district Baghdad- Iraq were investigated. Forth terrestrial invertebrates snails, slug, isopods, and diplopods , were selected for this study. The results showed that all invertebrate groups have the ability in accumulate considerable amounts of heavy metals. Higher levels of zinc and copper were observed in the isopods specimens, it's about ( 60.50±0.58 ) and ( 96.00±0.58 ) ppm respectively , while higher levels of lead were observed in the diplopods specimens ,it's about ( 23.00±1.15 ) ppm ,but the higher levels of both iron and cadmium were observed in snail specimens , it's about ( 590.00±1.15 ) and ( 9.50±1.15 ) ppm respectively .but the
... Show MorePolymethylmethacrylate film (PMMA) of thickness 75 μm was evaluated Spectrophotometrically for using it as a low-doses gamma radiation dosimeter. The doses were examined in the range 0.1 mrad-10 krad. Within an absorption band of 200-400 nm, the irradiated films showed an increase in the absorption intensity with increasing the absorbed doses. Calibration curves for the changes in the absorption differences were obtained at 218, 301, and 343 nm. At 218 nm the response for the absorbed doses is a linear in the range 10 mrad- 10 krad. Hence it is recommended to be adopted as an environmental low doses dosimeter
This study aims to study argumentation in political debates by figuring out the logical fallacies employed in the debates of Clinton and Trump, the presidential nominees of the 2016 elections, and Biden and Trump, the leading contenders in the 2020 United States presidential election. The study attempts to answer the questions: (1) What relevance fallacies are adopted in the debate between Trump and Clinton? (2) What rhetorical devices are used to influence the audience and gain voters besides fallacies in the debates selected? The study analyses two texts from two arguments using Damer's (2009) taxonomy of relevance fallacy and rhetorical devices based on Perrine’s (1969) model of communication and interpersonal rhetoric to answe
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... Show MoreThe aim of the study is to study the quality of services in a sample of the municipalities of Baghdad governorate and identify the deviations in their operations and provide solutions to address the causes of deviations. The research field aims at the same activity related to municipal services and their quality and analysis using some tools for continuous improvement to identify the authorities responsible for the delay and quality of services. In the future, the importance of research is shown by the use of these tools and their use and their application to the data of the directorates (sample of the study) to diagnose and treat problems, especially that they include statistical methods that are clear and easy to understand the
... Show MoreIn this study, the flexural performance of a new composite beam–slab system filled with concrete material was investigated, where this system was mainly prepared from lightweight cold-formed steel sections of a beam and a deck slab for carrying heavy floor loads as another concept of a conventional composite system with a lower cost impact. For this purpose, seven samples of a profile steel sheet–dry board deck slab (PSSDB/PDS) carried by a steel cold-formed C-purlins beam (CB) were prepared and named “composite CBPDS specimen”, which were tested under a static bending load. Specifically, the effects of the profile steel sheet (PSS) direction (parallel or perpendicular to the span of the specimen) using different C-purlins c
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