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.
In The Name of Allah Most Gracious Most Merciful
In this research, I will deal with the significance of the imperative and the disagreement of the fundamentalists in the general requirement by dividing it into an introduction and two sections. , and the appropriate indication.
الخلاصة لقد شكل المحافظون الجدد وهم بالأساس نخبة من المثقفين ومن السياسيين الأمريكيين كتلة ضغط كبيرة التأثير على الإدارة في عهد الجمهوريين. حمل هؤلاء المحافظون مشروعاً إيديولوجياً البسوه لسلطة الجمهوريين وهو يهدف إلى جعل أمريكا سيدة العالم من دون منازع خاصة بعد انهيار الاتحاد السوفييتي ونهاية الحرب الباردة. واكب هذا الحدث التاريخي الكثير من الأفكار ومنها (نهاية التاريخ)، وصراع الحضارات، وكذ
... Show MoreAfter more than ten years of successful march of the European single currency and EU countries faced a crisis in one of its debt, which recently joined the monetary union is not Greece . Perhaps mpre than th effects of this crisis, the fact that its consequences were not confined to Greece alone , but expand it to include all EU countries in general and the countries of the European Monetary Union in particular.
Sine the debt crisis that emerged Greek and talk a lot a bout their effects on the global economy and the potential harm done th the situation of the global economy recovers from the global financial crisis (mortgage crisis), or delayed and also the fears of other crises to other member states suf
... Show Moreدور اللوبي الصهيوني في صنع السياسة الأمريكية
Drama is one of the means of transmitting human experiences, as it presents within it the life ideas and visions of the spectator, who is subject to their influence on him, robbed of the will in front of its charm and various display arts, which invade him with its dimensions and affect his references, and this art form is based on stories revolving around personalities involved in events that have grown As a result of the struggle of two conflicting opponents, or two opposing forces or emotions generated as a result of a voluntary conflict, as this dramatic conflict represents the most important elements of those events, as it is embodied in an inevitable scene that emerges from other scenes, and this scene is sometimes subject to the
... Show Moreto study the discribrion and the pollution in the environment in the south of baghdad samples of waste water from industrail units using the mercury in its process also
The study of the subject of (Egyptian public opinion on the Libyan revolution) came to reveal the role of Egyptian public opinion in mobilizing and solidarity for the masses. With the events witnessed by the Arab countries before the revolution, this was evident by the people 's attitudes towards the tripartite aggression against Egypt in 1956, and the June 1967 war, and the most recent what the Egyptian people showed towards the Libyan revolution. The Egyptian press followed the completion of the arms deal with France and revealed the ability of the Libyan negotiator to achieve moral gain, supported by Egyptian support to thwart the United States intentions to arm "Israel" similarly. The Egyptian people expressed a love for peace and su
... Show MoreSince his first existence on earth, human had formed a connecting link for a regressive, kinetic and developed relationship that comes from a semi-complicated interaction between natural environment and constructed environment, and this resulted in the survival of human and his existence continuance. Constructed environment enabled human to survive the natural environment inconstancies and enemies as predators, also it helped him to feel safe, comfortable and to practice his everyday life activities...etc. This alternative interaction resulted in creating a civilized legacy for a group of landmarks that tell about the development of this relationship by elemental output that reached us either by documents and manuscripts or as an existed
... Show MoreA field study aimed to improve administrative performance of the Heads of Departments in Wasit University in light of the administrative functions, a questionnaire constructed was c of 38 items, as have been applied during the academic year 2014/2015 to a group of experts from the deans and assistants, professors and heads of departments using the Delphi method by two rounds the adoption rate of 90% and an agreement was numbered 30 experts and study reached important results have been analyzed and discussed according to fields of study, a planning, organization and direction.
The principle of an interview requires revenues to expenditures by linking the efforts and achievements and disclosure sufficient to result activity, in the case generate future benefits of a particular asset, this asset appears in the balance sheet to reflect with the rest of the accounting unit's assets on the strength of financial position In the absence of future benefits from the effort are so loaded effort on the result accounts that reflect the outcome of activity during a specific period if the month or be separated or fiscal year.
The researcher reached the following conclusions:
1- difficult to control the cash inflows and outflows as a result of the multiplicity of sources of funding.
2- wea
... Show More