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 fluorescence emission of Rhodamine 6G (R6G) and Acriflavine dyes in PMMA polymer have been studied by changing the irradiation and exposure time of laser light to know the effect of this parameter. It was found that the fluorescence intensity decreases in the polymer samples doped dyes as the exposure time increases and then reaches stabilization at long times, this behavior called photobleaching, which have been shown in liquid phase less than solid phase. Using 2nd harmonic with wavelength 530 nm laser, the photobleaching effect in the two dye-doped polymers different solvent but same was studied. It was observed that photobleaching of by different solution and by using dip spin coating the photobleaching seem in liquid phase more
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... Show MoreA new Mannich base ligand was prepared by reacting the 2-chloro.-N-(5-mercapto-1, 3, 4-thiadazol -2-yl) acetamide and Piperidine in the presence (formaldehyde) (L) ligand. A series of ligand complexes were prepared from (L) with the metal ion Co (II), Ni (II), Cu (II), Pd (II), Pt (IV), and Au (III). Various spectroscopic techniques such as C.H.N.S, FTIR, UV-VIS, , 1HNMR, 13CNMR, Magnetic moment, and molar conductivity successfully characterize the obtained compounds. The M: L ratio was determined using the molar ratio method in solution. All prepared compounds' antibacterial and antifungal activity was studied against two types of bacteria and one type of fungi at a rate of 0.02M. The standard ΔH° f and ΔEb of the ligands an
... Show MoreIn the present study, a novel ligand (L) made of 2-hydroxynaphthaldehyde and 3-hydrazone-1,3-dihydro-indole-2-one(3-[(3-hydroxynaphthalen-2-yl-ethylidene)-hydrazono]-1,3-dihydro-indol-2-one). The ligand was characterized by FTIR, UV-vis, mass, 1H-NMR, 13C-NMR, and CHN elemental analysis. New complexes of this ligand were created by treating methanol and a drop of DMF solution of the produced ligand with the hydrated metal salts of Mn(II), Co(II), Ni(II), Cu(II), and Zn(II) in a molar ratio of 2:1 (L:M). As a result, complexes have been emerged and identified FTIR, UV-vis, C.H.N., chloride-containing, molar conductance, magnetic susceptibility, and atomic absorption. The characterization result for each complex indicated complexes wi
... Show MoreIntroduction: The bacteriological and histopathological study of Raoultella planticola in local rabbits is not presented in previous research. There is no specific information about studying this bacterium in local rabbits. Hypothesis: The present study was based on Bacteriological and Histopathological changes in the trachea and lung of local rabbits after Samples were collected from 50 unhealthy animals that appear to be suffering from respiratory signs. Aim: To study the bacteria that were isolated for the first time from sheep suffering from respiratory infections, and diagnose them through Vitk2. Methods: We injected them into a group of local rabbits and studied the histopathological changes in the trachea and lungs. d
... Show MoreMixed ligands reaction of [2-[(3-hydroxyphenyl)diazinyl]-1,2-benzothiazol-3(2H)-one-1,1-dioxide] (H2L, primary ligand) and bipyridyl (secondary ligand) with salts of Cr(III), Mn(II), Fe(III), Co(II) and Ni(II) was performed. A series of air-stable complexes with distinctive octahedral moieties was created by equal molar ratio (1:1:1). The formation of these compounds was verified using detecting analysis techniques incorporating mass spectra, which validated the achieved geometries. Fourier transform infrared (FTIR) analysis demonstrated how the ligands (H2L and bipyridyl) are chelated as tridentate (ONO) and bidentate (NN) groups, respectively and the coordination with the metal ions. Thermal decomposition studies using pyrolysis (
... Show More5-((2,4-dibromo-6-((cyclohexyl(methyl)amino)methyl)phenyl)diazenyl)quinolin-8-ol azo ligand (L) has been synthesized through the reaction of diazonium salt for 2,4-dibromo-6-((cyclohexyl(methyl)amino)methyl)aniline with 8-hydroxyquinoline. The azo ligand (L) was characterized utilizing spectroscopic techniques, including FTIR, UV-Vis, 1H and 13C NMR, as well as mass spectrometry and micro-elemental analysis (C.H.N). Metal complexes containing Co(II), Ni(II), Cu(II), and Zn(II) were synthesized and analyzed through mass spectrometry, flame atomic absorption, elemental analysis (C.H.N), infrared and UV-Vis spectroscopy, along with measurements of conductivity and magnetic properties. The experimental findings suggested that all met
... Show MoreEfficacy of Varnishes with: Bioactive Glass, Recaldent Technology and Silver Diamine Fluoride in Comparison with Sodium Fluoride on Tooth Surface Micro-hardness (an In Vitro Study)
The complexes of the 2-hydroxy-4-Nitro phenyl piperonalidene with metal ions Cr(III), Ni(II), Pt(IV) and Zn(II) were prepared in ethanolic solution. These complexes were characterized by spectroscopic methods, conductivity, metal analyses and magnetic moment measurements. The nature of the complexes formed in ethanolic solution was study following the molar ratio method. From the spectral studies, monomer structures proposed for the nickel (II) and Zinc (II) complexes while dimeric structures for the chromium (III) and platinum (IV) were proposed. Octahedral geometry was suggested for all prepared complexes except zinc (II) has tetrahedral geometry, Structural geometries of these compounds were also suggested in gas phase by using
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