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.
A new results for fusion reactivity and slowing-down energy distribution functions for controlled thermonuclear fusion reactions of the hydrogen isotopes are achieved to reach promising results in calculating the factors that covered the design and construction of a given fusion system or reactor. They are strongly depending upon their operating fuels, the reaction rate, which in turn, reflects the physical behavior of all other parameters characterization of the system design
This work represents study the rock facies and flow unit classification for the Mishrif carbonate reservoir in Buzurgan oil Field, which located n the south eastern Iraq, using wire line logs, core samples and petrophysical data (log porosity and core permeability). Hydraulic flow units were identified using flow zone indicator approach and assessed within each rock type to reach better understanding of the controlling role of pore types and geometry in reservoir quality variations. Additionally, distribution of sedimentary facies and Rock Fabric Number along with porosity and permeability was analyzed in three wells (BU-1, BU-2, and BU-3). The interactive Petrophysics - IP software is used to assess the rock fabric number, flow zon
... Show MoreThe objective of the research is to identify the effect of an instructional design according to the active learning modelsالباحثين in the achievement of the students of the fifth grade, the instructional design was constructed according to the active learning models for the design of education. The research experience was applied for a full academic year (the first & the second term of 2017-2018). The sample consisted of 58 students, 28 students for the experimental group and 30 students for the control group. The experimental design was adopted with partial and post-test, the final achievement test consisted of (50) objectives and essays items on two terms, the validity of the test was verified by the adoption of the Kudoric
... Show MoreAbstract Exotoxin A is the most lethal virulence factor produced by Pseudomonas aeruginosa. It inhibits elongation factor-2 by ADP-ribosylation of EF2. This causes stop of the elongation of polypeptides. In recent study, the effect of low concentration of exotoxin A on some important internal organs of mice was studied. Four groups white mice were injected intraperitonialy with pure exotoxin A in the following manner 0.1, 0.2, 0.3, 0.4 ng\ animals. One mouse receives normal saline inrtaperitonialy as a control. After 72 hours the mice were killed and four organs were taken, liver, spleen, lung and heart from each killed mice. Histological sections were made from each organ and stained with hematoxylin and eosin stain then examined under mic
... Show MoreThe two-dimensional transient heat conduction through a thermal insulation of temperature dependent thermal properties is investigated numerically using the FVM. It is assumed that this insulating material is initially at a uniform temperature. Then, it is suddenly subjected at its inner surface with a step change in temperature and subjected at its outer surface with a natural convection boundary condition associated with a periodic change in ambient temperature and heat flux of solar radiation. Two thermal insulation materials were selected. The fully implicit time scheme is selected to represent the time discretization. The arithmetic mean thermal conductivity is chosen to be the value of the approximated thermal conductivity at the i
... Show MoreThe deficiency in the nurse staff in the health organizations consider an important problem that must be studied and solved basically , not only because it affect on the health organization and it's strategic goals , but also it affect the human being and it's health which can't be substituted with anything or delayed in it's treatment ,This research aims to necessary for health organizations to strategically help in maintaining the nurse staff and to keep that in it's strategic orientation and it's mission , moreover , the health organizations must study the reality of the nurse in the health organizations and know the causes beyond leaving the nurse staff the nurse job , and then remove
... Show MoreThe study conducted to investigate the association between Helicobacter pylori infection and eye diseases (Glaucoma, Cataract, CSR and Uveitis). One hundred and four patients with multiple eye disorders (10-80) years were observed from 10/9/2020 to 18/11/2020 and compared to thirty-one healthy people (19 female and 12 male). Each participant was tested for H. pylori CagAAbs and TNF-α using an enzyme-linked immunosorbent assay (ELISA). The results have shown that there was a non-significant difference (p≥0.05) in the concentration of CagAantibodies in sera of patients with eye diseases except in the case of CSR (central serous chorioretinopathy), which was a significant difference (P≤0.05) compared to the control group. Also, the result
... Show MoreForty lower premolars with single root canals prepared with ProtaperNext files to size 25, and obturated with GP/sealer using lateral compaction. Teeth divided randomly into four groups (group n=10). Protaper universal retreatment kit (PUR), D-Race desobturation files (DRD), R-Endo retreatment kit (RE) and Hedstrom (H) files (control) were used to remove GP/sealer in each group. Removal effectiveness assessed by measuring the GP /sealer remnants in the roots after sectioning them into two halves. Stereomicroscope with a digital camera used to capture digital images. Images processed by ImageJ software to measure the percentage of GP/sealer remnants surface area in total, coronal, middle and apical areas of the canal. In the coronal area,
... Show MoreDiverting river flow during construction of a main dam involves the construction of cofferdams, and tunnels, channels or other temporary passages. Diversion channels are commonly used in wide valleys where the high flow makes tunnels or culverts uneconomic. The diversion works must form part of the overall project design since it will have a major impact on its cost, as well as on the design, construction program and overall cost of the permanent works. Construction costs contain of excavation, lining of the channel, and construction of upstream and downstream cofferdams. The optimization model was applied to obtain optimalchannel cross section, height of upstream cofferdam, and height of downstream cofferdamwith minimum construction cost
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