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 aim of this research is to identify the extent to which the Conventional and Islamic banks are committed to implement the requirements of the corporate governance in its financial reports. In addition to its commitment to transparency and clarity in dealing with the shareholders and stockholders to protect their interests and to determine the impact of the commitment of the corporate governance on assessing the financial performance of the conventional and Islamic banks that participate in Bahrain Stock Exchange.
The emergence of artistic movements in Western countries was after the period of modernity. They have introduced a great dialectical problem at the level of thought and discourse, which necessitated a change in the course of the aesthetic discourse into new visions. Thus, the present research aims to identify the aesthetic discourse of pop artists' Art and its representations in the outputs of the students of the Department of Art Education. The theoretical framework included two sections: the first one, what is the aesthetic discourse and the second is the educational bases of the students' outputs. The procedures of the current research included the analytical descriptive approach. The research sample consisted of (4) outputs chosen ac
... Show MoreAfter the spread of the function of the scenographer in the modern theater, his vision has become present in most of the theatrical works and because the director is the master of the work and the owner of the vision that appears in front of the audience, the overlap between the visions of each of them was required. This research is an attempt to detect the overlap and disengagement in the work of each of them.
The research is divided into a methodological framework that included the research problem, importance, limits, and purpose, and then the definition of terms. In the theoretical framework, the research dealt with two theoretical sections that pave the way for raising ideas related to this subject: the first section (scenography
Education represents a different their areas, especially after the educational cornerstone of Staff of the community in which young person’s that can stand up and shared the overall development process.
In order for education to be effective in the community, there is a need to develop to cope with the process development of civilization and modern technology. And for that to be achieved the goal of current research to stand on the advancement of the educational process through Knowledge of educational strategies that had previously requirements put forward for the development of educational process as well as through Knowledge of the mo
... Show MoreAs an architectural philosophical concept, Islamic architecture cannot be considered arches, doors, domes and lighthouses, since Islamic architecture is based on a structural system of religious, mental, philosophical and logical origins and beliefs shared by the arts, technology and the requirements of the surrounding environment. Rather, the architectural designer's distance from it becomes as if it is for people not from this world, and Islamic architecture is not abbreviated on the heritage side as much as it is a renewed "modern" state, dealing with the concepts of Islam that are valid for every time and place. This can be seen through the mechanisms that produced heritage architecture and what was built on it, which is not a simula
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... Show MoreIt is important to set the background of stiffen arbitration agreement, to understand the real reasons of the fighting. When the Syrians began to lose, raised the masahif and made their announcement, most the qurrar, and so no need to continued fighting.
In their view all that remained was the matter of drawing up formal peace with Ali, Muamiya; Ali would recognize as Amir al-muminin by both Syrian and Iraqis.
The most of the Iraqisfavored settlement for different persons, for example-A'shath, the most power full of the clan leaders of Rabia, his interest by insuring that neither Ali nor Mu
... Show MoreThe training of great importance in the play, in building optic and intellectual broadcast codes tags, and then comes after the recipient at the reception of such codes and decoded tags, and is the rhythm, the color of the most important elements of configuration, consistent with other elements, Kaltmathl, and focus, and harmony, and dissonance
This research is a study in which the researcher follows the al-Najjariya sect, which is attributed to Abi Abdullah al-Hussain bin Muhammad bin Abdullah al-Najjar, who died around (220 AH) and aims to:
1- Finding out the time of the emergence of this sect, and removing the confusion as to whether it was from the origins of the sects, or just an independent sect, or affiliated with one of the famous sects.
2- Standing on the most prominent theological opinions adopted by this sect, and in which of them did the Mu'tazila sect agree, and in which of them did the Sunnis and the community agree.
3- Statement of the most prominent sects that branched out from this sect.