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.
This study aims to deeply analyze the character of serial killers in Thomas Harris’ novels and focuses on his novel Red Dragon. The Study searches in these complex and deep characters through the use of Erich Fromm's concepts about the destructive nature of the human psyche and what are the factors affecting serial killers in all social psychological, and biological aspects. This study Concluded: Thomas Harris portrayed the characters of serial killers in a professional and complex and made the reader go on a contemplative journey in the mind and soul of the serial killer, thus reaching the climax of artistic perfection.
Objective(s): The study aims Finding relationship between UTI and demographic variable include: child's age, child's gender, if males are circumcised or not, child's order in his family, father's level of education, mother's level of education, place of residence and family socioeconomic status. Methodology: A descriptive study was conducted on students of primary schools for both sexes, for the period from 19th. February 2014 through to 4th March 2014. A selected sample from two steps the first stage is to choose a school by a stratified- cluster sample, getting schools that have been selected (12) sch
One of the most important intellectual issues, which receive attention is the issue of modernity, it has occupied the scholars of all time. However, modern poetry used to have special care in Iraq and in the Arab countries .. it is not strange that the concept of modernity is linked to history .. or having history as the most important dimension of its dimensions .. because Arab poetry is historical and it is moving into an area of the past that is still active in terms of language and literary image .. When some poets found that changing and modernizing poetry became a necessity of evolution, and one of the fundamentals of modernization, the cultural impact did not respond to the desire of poets, and their impulse in modern poetry
... Show MoreNicotiana tobaccum L (Solanacea) extracts are used as a mollusciede to the snail Bulinus truncatus the intermediate host of urinary Schistosomiasis. LC50 of the extracts to the snail with 24 hour was 3.27 ml/l? 48 hour was 3.33 ml/l? 72 hour was 2.67 ml/l and 96 hour was 2.28ml/l. This study showed the ability to use the leaf extracts in the control of this type of snail.
Abstract In this paper the effect of light exposure duration on Anthracene solution in chloroform is studied. It is found that: the Anthracene solution change its color when it is exposed to light, and that its relative quantum efficiency, Φ, decreases as the light exposure duration, t, increases and this govern by following empirical equation:- Φ = 0.7918-0.0762 In (t)
The recurrent somatic variations in
The aim of the study was to detect the frequency of R132 mutations in the
This study aims to clarify the role of Iraqi satellite channels in spreading negative values among university youth; and the tendency of this segment to simulate the descending behaviors and pseudo-peculiar concepts of our society, which are displayed through the screens of these channels, based on the relevant media literature such as scientific references and the results of previous studies and research.
The study followed the survey methodology to examine the public based on the questionnaire as a research tool, which was distributed to a sample of male and female students of Baghdad University enrolled in the university for the academic year 2011-2012.
In order to achieve the specific objectives of this research
... Show MoreThis study utilized low-cost agricultural waste (molasses production waste powder) to extract copper ions from aqueous solutions. The present investigation explored a range of factors that influence the adsorption process, including temperature, pH, ionic strength, contact time, quantity of adsorbent, and particle size. Spectrophotometric analysis was used to determine the solution's absorbance both before and after the adsorption procedure. The Langmuir and Freundlich adsorption models were used to match the equilibrium data. The Freundlich model was determined to be the best isotherm model using the linear regression coefficient R2=0.9868. Thermodynamic parameters, including enthalpy, entropy, and Gibbs free energy, were calculate
... Show MoreThe rental activity receives "significant" interest from accounting organizations interested in issuing accounting standards worldwide, such as the Financial Accounting Standards Board (FASB), the International Accounting Standards Board (IASB). As leases represents an important source of finance for economic units as an alternative to financing assets through purchase or borrowing. Professional organizations have focused on addressing the situation of extra-budgetary funding through which the lessee hides many leases that are classified as financing without It shows in the budget, which gives an incorrect picture of the reality of the financial situation of economic unity, IASB has issued IFRS 16, which terminates off- Balance s
... Show MoreThe process of cognitive representation includes mental activities such as perception, concepts formation and decision making leading to formation of Cognitive representation where the need for Cognition is one of basic humane needs promoting individuals to have more information.
This Study aims to measure the level of Cognitive representation among gifted Schools, the level of need for Cognition among them, recognize statistical Significant differences with Cognitive representation according to gender Variable and recognize the Correlation between Cognitive representation and the need for Cognition among giftel schools . The sample Consists of subsample of mair application one Consisting of( 400) students, noting that the first sampl