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 current research aims to identify the effectiveness of a computerized program in developing mathematical skills among the first cycle students in basic education schools in the Sultanate of Oman. The two researchers used the quasi-experimental approach on an intentional sample consisting of (40) male and female students at Al Kawakeb School for Basic Education (1-4). Two of the basic fourth-grade classes and then randomly distributing them into two groups, one is experimental (20) male and female students who followed the computerized interactive program, and the other is (20) male and female students followed the traditional way. On the other hand, its reliability has reached (0.81), and the results of the research have concluded th
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The present paper focuses on examining the style of both the civilized dialogue of Prophet Hud (PBUH) in the Glorious Qur'an, and the debated dialogue of Aad’s people. The study consists of an introduction which shows the importance of the civilized dialogue and its significant impact on containing, accepting, and persuading the other in peaceful ways without intolerance and violence. Then, the conditions and techniques of the civilized dialogue and its types have been mentioned. This is followed by the practical side of the study, which involves examining stylistically the techniques used in Hud’s (PBUH) civilized dialogue to be invested later in people’s future conversations. It is also concerned with investigating stylistically
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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
... Show MoreExperiments research is done to determine how saturated stiff clayey soil responds to a single impulsive load. Models made of saturated, stiff clay were investigated. To supply the single pulse energy, various falling weights from various heights were tested using the falling weight deflectometer (FWD). Dynamic effects can range from the major failure of a sensitive sensor or system to the apparent destruction of structures. This study examines the response of saturated stiff clay soil to a single impulsive load (vertical displacement at the soil surface below and beside the bearing plates). Such reactions consist of displacements, velocities, and accelerations caused by the impact occurring at the surface depth induced by the impact loads
... Show More--The objective of the current research is to identify: 1) Preparing a scale level for e-learning applications, 2) What is the relationship between the applications of e-learning and the students of the Department of Chemistry at the Faculty of Education for Pure Sciences/ Ibn Al-Haytham – University of Baghdad. To achieve the research objectives, the researcher used the descriptive approach because of its suitability to the nature of the study objectives. The researcher built a scale for e-learning applications that consists of (40) items on the five-point Likrat scale (I agree, strongly agree, neutral, disagree, strongly disagree). He also adopted the scale of scientific values, and it consists of (40) items on a five-point scale as wel
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