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 research aims to identify the educational values prevailing in the small kinetic games for the children of Riyadh, and to categorize the educational values of the kinetic games small children Riyadh. The research analyzed the content of a number of small kinetic games that included studied physical education at the two pre-kindergarten and stipulated by the Platform for kindergartens, which is being applied. The content analysis was used by analysts agreement with themselves over time (21) days. The agreement between the external researcher and analyst. The researcher used the Cooper to extract equation lab agreement between the researcher and the outside analyst, has reached agreement on determining factor idea and label values (0.8
... Show Moredictates the need to study the cultural aspects of the context and the consequent relations between the person and the objective environment surrounding him, as the philosophical understanding of the role of culture has led to the emergence of new theoretical interpretations of design that are organically linked with the development of society, especially that the development of the human environment philosophically and culturally is linked to the philosophical perception of its role in Culture as a precondition for new theoretical interpretations of design.
From the above, this problem can be studied by defining the following question (What are the implications of the cultural context in graphic design)?
The research included
The estimation of quantity of liquid that is collected from gas/oil separation system is a very complex task because it requires the application of the flash calculations which needs to solve the cubic equation of state and to use some numerical techniques. These difficulties can be overcome by a computer model which requires a lot of experimental data, long time, and experience.
This paper adopts a new technique to simplify this problem. It suggests new correlations for optimum separator pressure for separation station of heavy oils. The correlations have been achieved for two- and three- stage separation systems.
The co
A study to find the optimum separators pressures of separation stations has been performed. Stage separation of oil and gas is accomplished with a series of separators operating at sequentially reduced pressures. Liquid is discharged from a higher-pressure separator into the lower-pressure separator. The set of working separator pressures that yields maximum recovery of liquid hydrocarbon from the well fluid is the optimum set of pressures, which is the target of this work.
A computer model is used to find the optimum separator pressures. The model employs the Peng-Robinson equation of state (Peng and Robinson 1976) for volatile oil. The application of t
In this paper, new approach based on coupled Laplace transformation with decomposition method is proposed to solve type of partial differential equation. Then it’s used to find the accurate solution for heat equation with initial conditions. Four examples introduced to illustrate the accuracy, efficiency of suggested method. The practical results show the importance of suggested method for solve differential equations with high accuracy and easy implemented.
Building a system to identify individuals through their speech recording can find its application in diverse areas, such as telephone shopping, voice mail and security control. However, building such systems is a tricky task because of the vast range of differences in the human voice. Thus, selecting strong features becomes very crucial for the recognition system. Therefore, a speaker recognition system based on new spin-image descriptors (SISR) is proposed in this paper. In the proposed system, circular windows (spins) are extracted from the frequency domain of the spectrogram image of the sound, and then a run length matrix is built for each spin, to work as a base for feature extraction tasks. Five different descriptors are generated fro
... Show MoreIn this paper, we propose a method using continuous wavelets to study the multivariate fractional Brownian motion through the deviations of the transformed random process to find an efficient estimate of Hurst exponent using eigenvalue regression of the covariance matrix. The results of simulations experiments shown that the performance of the proposed estimator was efficient in bias but the variance get increase as signal change from short to long memory the MASE increase relatively. The estimation process was made by calculating the eigenvalues for the variance-covariance matrix of Meyer’s continuous wavelet details coefficients.