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 traumatic memory of their ancestors. The novel navigates sites of trauma, memory, and blues music while resisting the bourgeoisie-capitalist relationships that permeated not only white society but also African American communities. Jones’s novel presents the plight of an African American woman, Ursa, caught between the memory of her enslaved foremothers and her life in an emancipated world. The physical and spiritual exploitation of African American women who bear witness to the history of slavery in Corregidora materializes black women’s individuality. This article is framed by trauma studies as well as the Marxists’ concepts of commodification, accumulation, and production. Ursa, one of the Corregidora women, represents
... Show MoreBackground: the early identification of developmental disabilities allows intervention at the earliest possible point to
improve the developmental potential.
Objective: Identify the scope of knowledge of nurses toward signs of gross motor delay for children and its relation to
their demographic characteristics.
Methodology: A descriptive study design was conducted at (18) primary health care centers in first of the primary
health care sector of Alhawija District in Kirkuk Governorate. This study started from September 2010 to the end of
January 2011, in order to identify the level of nurses' knowledge toward signs of gross motor delay for children in
primary health care centers. Non probability (purposive) sample of
The principal concern of this study is Disjunct and Conjunct adverbials in the
English language. The study sets out to explore and clarify the types, nature and
structure of disjuncts and conjuncts. It also aims at testing student's performance to
evaluate the use and usage of the disjuncts and conjuncts in their written performance.
Two tests, accordingly, were given to some fifty students of at the Dept. of English, at
the college of languages (third and fourth stages) in the University of Sulaimani. The
hypothesis that the study was based on are those students use disjuncts and conjuncts
hardly enough in their writings and when doing so, they generally tend to stick only to
the most commonly used and familiar o
One of the most significant environmental issues facing the planet today is air pollution. Due to development in industry and population density, air pollution has lately gotten worse. Like many developing nations, Iraq suffers from air pollution, particularly in its urban areas with heavy industry. Our research was carried out in Baghdad's Al-Nahrawan neighbourhood. Recently, ground surveys and remote sensing were used to study the monitoring of air pollution. In order to extract different gaseous and particle data, Earth Data source, Google Earth Engine (GEE), and Geographic Information Systems (GIS) software were all employed. The findings demonstrated that there is a significant positive connection between data collected by ground-ba
... Show MoreBecause of its importance in the world, Middle East area is one of the competition areas between the major and great powers. Among those powers are Russia and United states of America. The competition between these two powers to control Syria is greatly clear since 2011. It is also one of the most important subject in the international politics. This importance comes from the importance of Russia and the United States of America besides importance of the Middle East. At the end of the cold war, United States of America maintained its role in the international system and became the only pole that dominated the international affairs while Russia tried to overcome the challenges inherited from the former Soviet Union, and it succeeded in th
... Show Moreهدف البحث إلى بناء مقياسين تخصصين للنزاعات اللاشعورية وحرية الإرادة لمدربي بعض ألعاب القوى والتعرف على مستوى كل منهما لديهم، وإعداد برنامج إرشادي نفسي مستند لرفع مستوى الحالات اللاشعورية وحرية الإرادة للمدربين الذين يعانون من انخفاض مستوى النزاعات اللاشعورية وحرية الإرادة، والتعرف على تأثير البرنامج الإرشادي نفسي في النزاعات اللاشعورية وحرية الإرادة لدى مدربي بعض ألعاب القوى، لتفترض بذلك الباحثة بإ
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