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.
Abstract
This research aims to identify the challenges faced by families of children with intellectual disabilities and to identify the impact of the challenges facing them on the mental health of their children with intellectual disabilities. Based on the following questions: What is the nature of the challenges faced by families of children with disabilities and how do these challenges affect the mental health of their children with intellectual disabilities? The study was conducted on a sample of four families of six children with intellectual disabilities, depending on the degree and type of disability. To achieve the study's objectives, the qualitative approach was used, Because of the importance of accessin
... Show MoreThis study aims to investigate the degree of practicing the motivated classroom evaluation environment for learning and its relationship to different feedback patterns. To achieve the objectives of the study, the correlational descriptive research design was employed. A questionnaire was constructed consisting of two parts: the classroom evaluation environment (13) items, and feedback patterns (24) items on a five-point scale. The psychometric properties of the questionnaire were verified in terms of validity and reliability. The questionnaire was applied to a sample of (265) male and female teachers who work in the second cycle schools for grades (5-10) of basic education in all academic majors in the Governorate of Muscat in the Sultan
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Research aims to shed light on the concept of corporate failures , display and analysis the most distinctive models used to predicting corporate failure; with suggesting a model to reveal the probabilities of corporate failures which including internal and external financial and non-financial indicators, A tested is made for the research objectivity and its indicators weight and by a number of academics professionals experts, in addition to financial analysts and have concluded a set of conclusions , the most distinctive of them that failure is not considered a sudden phenomena for the company and its stakeholders , it is an Event passes through numerous stages; each have their symptoms that lead eve
... Show MoreThe removal of turbidity from produced water by chemical coagulation/flocculation method using locally available coagulants was investigated. Aluminum sulfate (alum) is selected as a primary coagulant, while calcium hydroxide (lime) is used as a coagulant aid. The performance of these coagulants was studied through jar test by comparing turbidity removal at different coagulant/ coagulants aid ratio, coagulant dose, water pH, and sedimentation time. In addition, an attempt has been made to examine the relationship between turbidity (NTU) and total suspended solids (mg/L) on the same samples of produced water. The best conditions for turbidity removal can be obtained at 75% alum+25% lime coagulant at coagulant dose of 80 m
... Show MoreThe faujasite type Y zeolite catalyst was prepared from locally available kaolin. For prepared faujasite type NaY zeolite X-ray, FT-IR, BET pore volume and surface area, and silica/ alumina were determined. The Xray and FT-IR show the compatibility of prepared catalyst with the general structure of standard zeolite Y. BET test shows that the surface area and pore volume of prepared catalyst were 360 m2 /g and 0.39 cm3 /g respectively.
The prepared faujasite type NaY zeolite modified by exchanging sodium ion with ammonium ion using ammonium nitrate and then ammonium ion converted to hydrogen ion. The maximum sodium ion exchange with ammonium ion was 53.6%. The catalytic activity of prepared faujasite type NaY, NaNH4Y and NaHY zeolites