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 negotiation phase is gaining great importance in investment loans due to the magnitude of the amounts awarded and the need to obtain adequate lending guarantees and the development of better conditions, and this requires that negotiating policy with fixed principles that balance between meeting the demands of customers and maintain market share and achieve profits and avoid defaults and losses the bank, and so I have touched Find the concept of investment loans and procedures for granting and the concept of the negotiation process for the granting of loans. The practical side to ensure the preparation of examination form consists of questions commensurate with the methodology developed by the researchers, were directed to the officia
... Show MoreThis study aimed to identidy the role of a professional social worker practice specialist in the field of social care for Corona patients, in light of some demographic variables such as (gender, marital status, economic status,), through a field study at the Iraqi Ministry of Social Affairs. A random sample of (50) social workers in the Iraqi Ministry of Social Affairs in various places affiliated with the ministry was chosen. a questionnaire developed by the researcher about the role of the social worker in the field of social care for Corona patients was administered to the study sample to collect the needed data. The results showed that there is a positive statistically significant correlation relationship at the level (0.01) between
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The pressures of life have become a tangible phenomenon in all societies in varying degrees. This disparity determines several factors, including the nature of societies, the level of their urbanization, the intensity of interaction, the intensity of conflict, and the increasing rate of change in those societies. many people name The modern era in which we live the “era of pressures", where one of the most important of these changes is the “new Coronavirus 19-COVID”, which has spread widely throughout the world, as the pandemic, has affected all aspects of daily life, including the educational and academic process, academic activities have been suspended in universities, which caused sudden change
... Show MoreCongenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing
The present study evaluated the anti- Helicobacter pylori IgG, IgA and the role of virulence factor of H. pylori Vacuolating associated cytotoxin gene (Vac A) as a risk factors for CAD. The levels of serum IgG and IgA was done by indirect immunofluorescent (IIF) whereas Vac A measured by enzyme linked immunosorbent assay (ELISA). Ibn Al-Bitar specialist center for cardiac surgery laboratory and Ministry of Health/ Baghdad/ Iraq, between May and October 2018. Seventy Iraqi patients with CAD were enrolled in this study, their ages ranged between 40-84 years ; and 20 individuals as a control group which was divided into 2 subgroups: 10 apparently healthy volunteers (negative control) and the other subgroup contained 10 with normal coronary art
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Background: Interleukin-6 (IL-6) is a cytokine that has several functions, including stimulating growth and inhibiting cell death. It has the potential to operate as a biomarker for the accurate prediction of disease severity and activity, platelets-rich plasma was used in the treatment of oral lichen planus and can change the salivary IL-6 level.
Objectives: To study the clinical outcome of intralesional platelets-rich plasma in patients with oral lichen planus and to measure salivary IL-6 levels before and after the treatment with platelets-rich plasma were the aims of this study.
Subjects and Methods: In this clinical trial, for each patient a standardi
... Show MoreThe presence and absence binary is an essential part of and a motivation for the direction vision which depends on the principle that the components of the theatre performance move in contrast with each other; one is directly informative which is the presence relations and the other is structural that is identical to the absence relations. The first is material band visual that evokes the incorporeal mental absent. Hence, the present study(Presence and Absence in the Iraqi Theatre Performance :Summer's Rain Play as an Example) aims at explaining those relations and their transformations between presence and absence in the performance
This research paper studies the use of an environmentally and not expensive method to degrade Orange G dye (OG) from the aqueous solution, where the extract of ficus leaves has been used to fabricate the green bimetallic iron/copper nanoparticles (G-Fe/Cu-NPs). The fabricated G‑Fe/Cu-NPs were characterized utilizing scanning electron microscopy, BET, atomic force microscopy, energy dispersive spectroscopy, Fourier-transform infrared spectroscopy and zeta potential. The rounded and shaped as like spherical nanoparticles were found for G-Fe/Cu‑NPs with the size ranged 32-59 nm and the surface area was 4.452 m2/g. Then the resultant nanoparticles were utilized as a Fenton-like oxidation catalyst. The degradation efficiency of
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