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.
Purpose – The main purpose of this research is to highlight the main role of strategic leadership skills for top managements in accessing to effective management in accordance with the (VUCA Prime) methodology in (VUCA) environment as Miniature virtual environment, which refers to (Volatility), (Uncertainty), (Complexity), and (Ambiguity).
methodology – To achieve the research objective, this study selected the quantitative approach in research design, Questionnaire was used as the main instrument for data collection, the sample comprised the opinion poll (106) individual who functions as a head department. (Structural equation modelling by (Smart Pls3)
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A quantitative study was conducted among hypertensive patients at a tertiary care hospital in Selangor, Malaysia. A validated and translated questionnaire was utilised as a data collection tool. Descriptive and inferential statistical analysis was done using SPSS version 25.
A thousand participants (female n=621, male n= 379) were recruited, and their
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Transformations of the actor when acting many characters are the product of joint work between the actor and the director through the instructions and the exercises that facilitate the reach for the desired goal.
The method or way has often been used which is Stanislavsky premises in his work with the actor in the role. The first section consists of two parts under the heading of the actor's work with himself. The two parts are preparing the actor in creative suffering (internal), and in coexistence and embodiment (outside). The second section is the book of the actor's work with the role. The current research aims at identifying the mechanism of the acting performance transformations among many characters of the same actor.
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The aim of the research is to measure the effect of changing the exchange rate on bank loans, and in order to achieve this goal, the (official exchange rate) was chosen as an independent variable and its effect was studied on the dependent variable, which is bank credit. Commercial Gulf, Baghdad, A Shore International for Investment (and the financial indicators (growth rate of loans) and the statistical program (Eviews 12) were used to measure the impact of the exchange rate change on the bank credit of banks, the research sample for the period 2012-2022, and the research reached a group Among the conclusions, the most important of which is that the
... Show MoreImportance of study :
The interesting of industrial sector and developing it after corner stone. It is important to build economic balanced and get behind and front linkage for transformative industrials, and this is important to get balanced.
The value of transformative industry sector is more important than other sectors in economy, and this is reflect the capital in industrial sector .Industry sector is larger than other sectors ,so it regards the motive which moving the economic wheel .
The problem :
The research treats reduction and retreat the ind
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The study which was done had been based on the academic achievement test for creative writing skills, and the reflective thinking test. The validity and reliability of the study tools were also confirmed. The study was applied to a sample consisting of
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