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.
Find interested in the harmonization of variables and determinants of supply chain planning needs of the material, leading to the results start effective supply chain management, and end up quickly modify the sizes to suit the demand and turnover in the market. As well as identifying relationships between variables, and type of relationship used by the company with the processors and their feasibility, and indicate the level of interest and willingness to redesign the supply chain Company for Electrical Industries and build an integrated model for supply chain with the MRP system can be applied in the company.
Research depend on quantitative and descriptive method, It
... Show MoreWe manufactured the nanoparticles light emitting diode (NPs-LED) for organic and inorganic semiconductors to achieve electroluminescence (EL). The nanoparticles of Europium oxide(Eu2O3) were incorporated into the thin film layers of the organic compounds, poly(3,4,- ethylene dioxythiophene)/polystyrene sulfonic acid (PEDOT:PSS), N,N’–diphenyl-N,N’ –bis(3-methylphenyl)-1,1’-biphenyl 4,4’- diamine (poly TPD) and polymethyl methacrylate (PMMA), by the spin coating and with the help of the phase segregation method. The EL of NPs-LED, was study for the different bias voltages (20, 25, 30) V at the room temperature, from depending on the CIE 1931 color spaces and it was generated the white light at 20V, t
... Show MoreAbstract Kidney stones are one of the most common and most painful medical problems known (1). Nurses assess and monitor patients through diagnosis and treatment and teach patients how to avoid recurrence of stones (2). A descriptive study was conducted on 150 patients diagnosed with recurrent kidney stones, who were attending the out patients consultation urology disease clinics at surgical specialties, Al-Kadhimia, Al-Yarmook, and Al-Karama Teaching Hospital and Extracorporeal shock wave lithotripsy (ESWL) departments for the period from the 1st of Feb. 2002 through to the end of May 2004. The aim of
Thin films of vanadium oxide nanoparticles doped with different concentrations of europium oxide (2, 4, 6, and 8) wt % are deposited on glass and Si substrates with orientation (111) utilizing by pulsed laser deposition technique using Nd:YAG laser that has a wavelength of 1064 nm, average frequency of 6 Hz and pulse duration of 10 ns. The films were annealed in air at 300 °C for two hours, then the structural, morphological and optical properties are characterized using x-ray diffraction (XRD), Field emission scanning electron microscopy (FESEM) and UV-Vis spectroscopy respectively. The X-ray diffraction results of V2O5:Eu2O3 exhibit that the film has apolycrystalline monoclinic V2O5 and triclinic V4O7 phases. The FESEM image shows a h
... Show MoreLasers, with their unique characteristics in terms of excellent beam quality, especially directionality and coherency, make them the solution that is key for many processes that require high precision. Lasers have good susceptibility to integrate with automated systems, which provides high flexibility to reach difficult zones. In addition, as a processing tool, a laser can be considered as a contact-free tool of precise tip that became attractive for high precision machining at the micro and nanoscales for different materials. All of the above advantages may be not enough unless the laser technician/engineer has enough knowledge about the mechanism of interaction between the laser light with the processed material. Several sequential phenom
... Show MoreChitosan-schiff base with three different ratios of para-Dimethyl aminobenzaldehyde& chitosan Schiff base hydrogels have been prepared for controlled drug release study. The synthesized chitosan Schiff base and chitosan Schiff base hydrogel were characterized by FT-IR, UV-Visible, SEM, analysis. Swelling properties of the hydrogel were investigated at three different media pH (2, 7, 10). The swelling degree varied with the pH, amount of crosslinking agent glutaraldehyde and with the amount of paraDimethylaminobenzaldehyde for the hydrogels. All hydrogels were used for controlled drug release system. Aspirin was used as model drug, in three different buffer solution (2, 7, 10) as release media. The rate of release of drugs in the pH2 is more
... Show MoreIn this study, 191 specimens of insects that infect species of the Fabaceae family, including:
The present work aims to validate the experimental results of a new test rig built from scratch to evaluate the thermal behavior of the brake system with the numerical results of the transient thermal problem. The work was divided into two parts; in the first part, a three-dimensional finite-element solution of the transient thermal problem using a new developed 3D model of the brake system for the selected vehicle is SAIPA 131, while in the second part, the experimental test rig was built to achieve the necessary tests to find the temperature distribution during the braking process of the brake system. We obtained high agreement between the results of the new test rig with the numerical results based on the developed model of the brake
... Show MoreIn this paper had been studied the characterization of the nanocatalyst (NiO) Mesh electrodes. For fuel cell. The catalyst is prepared and also the electrodes The structural were studied through the analysis of X-ray diffraction of the prepared nanocatalyst for determining the yielding phase and atomic force microscope to identify the roughness of prepared catalyst surface, Use has been nanocatalyst led to optimization of cell voltage, current densities & power for a fuel cell.