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.
In this work, the effect of annealing temperature on the electrical properties are studied of p-Se/ n-Si solar cell, which p-Se are deposit by DC planar magnetron sputtering technique on crystal silicon. The chamber was pumped down to 2×10−5 mbar before admitting the gas in. The gas was Ar. The sputtering pressure varied within the range of 4x10-1 - 8x10-2mbar by adjusting the pumping speed through the opening control of throttle valve. The electrical properties are included the C-V and I-V measurements. From C-V measurements, the Vbi are calculated while from I-V measurements, the efficiency of solar cell is calculated.
Phenol is one of the worst-damaging organic pollutants, and it produces a variety of very poisonous organic intermediates, thus it is important to find efficient ways to eliminate it. One of the promising techniques is sonoelectrochemical processing. However, the type of electrodes, removal efficiency, and process cost are the biggest challenges. The main goal of the present study is to investigate the removal of phenol by a sonoelectrochemical process with different anodes, such as graphite, stainless steel, and titanium. The best anode performance was optimized by using the Taguchi approach with an L16 orthogonal array. the degradation of phenol sonoelectrochemically was investigated with three process parameters: current de
... Show MoreThe Aaliji Formation in wells (BH.52, BH.90, BH.138, and BH.188) in Bai Hassan Oil Field in Low Folded Zone northern Iraq has been studied to recognize the palaeoenvironment and sequence stratigraphic development. The formation is bounded unconformably with the underlain Shiranish Formation and the overlain Jaddala Formation. The microfacies analysis and the nature of accumulation of both planktonic and benthonic foraminifera indicate the two microfacies associations; where the first one represents deep shelf environment, which is responsible for the deposition of the Planktonic Foraminiferal Lime Wackestone Microfacies and Planktonic Foraminiferal Lime Packstone Microfacies, while the second association represents the deep-sea environme
... Show MoreMetal complexes chrome(III), manganese(II), iron(III), cobalt(II), nickel(II), cupper(II) and zinc(II) with diazonium of 3-amino-2-chloropyridine of general formula [2-Cl-C5H3N≡N]n[MXm], where n=2 or 3 for divalent and trivalent metal, m= 4 or 6 were synthesized. The complexes have been characterized by flame atomic absorption, (C.H.N), molar conductance, magnetic susceptibility UV-vis spectra, infrared spectra,1H-NMR spectroscopy and thermo gravimetric analysis (TGA and DTA). The measurements showed that the divalent metal ion complexes (M2+) have (1:2) M:L ratio with tetrahedral geometry around metal ions while the trivalent metal ions (M3+) formed (1:3) m
... Show MoreIn this study, a genetic algorithm (GA) is used to detect damage in curved beam model, stiffness as well as mass matrices of the curved beam elements is formulated using Hamilton's principle. Each node of the curved beam element possesses seven degrees of freedom including the warping degree of freedom. The curved beam element had been derived based on the Kang and Yoo’s thin-walled curved beam theory. The identification of damage is formulated as an optimization problem, binary and continuous genetic algorithms
(BGA, CGA) are used to detect and locate the damage using two objective functions (change in natural frequencies, Modal Assurance Criterion MAC). The results show the objective function based on change in natural frequency i
The present work reports on the performance of three types of nanofiltration membranes in the removal of highly polluting and toxic lead (Pb2+) and cadmium (Cd2+) from single and binary salt aqueous solutions simulating real wastewaters. The effect of the operating variables (pH (5.5-6.5), types of NF membrane and initial ions concentration (10-250 ppm)) on the separation process and water flux was investigated. It was observed that the rejection efficiency increased with increasing pH of solution and decreasing the initial metal ions concentrations. While the flux decreased with increasing pH of solution and increasing initial metal ions concentrations. The maximum rejection of lead and cadmium ion
... Show MoreA simple and rapid high performance liquid chromatographic with fluorescence detection method for the determination of the aflatoxin B1, B2, G1 and G2 in peanuts, rice and chilli was developed. The sample was extracted using acetonitrile:water (90:10, v/v%) and then purified by using ISOLUTE multimode solid phase extraction. After the pre-column derivatisation, the analytes were separated within 3.7 min using Chromolith performance RP-18e (100–4.6 mm) monolithic column. To assess the possible effects of endogenous components in the food items, matrix-matched calibration was used for the quantification and validation. The recoveries of aflatoxins that were spiked into food samples were 86.38–104.5% and RSDs were <4.4%. The method was
... Show MoreThis study aims to establish an empirical correlation between biochemical oxygen demand (BOD5) and chemical oxygen demand (COD) of the sewage flowing in Al-Diwaniyah wastewater treatment plant. The strength of the wastewater entering the plant varied from medium to high. High concentrations of BOD5 and COD in the effluent were obtained due to the poor performance of the plant. This was observed from the BOD5 /COD ratios that did not confirm with the typical ratios for the treated sewage. To improve the performance of this plant, regression equations for BOD5 and COD removal percentages were suggested which can be used to facilitate rapid effluent assessment or optimal process control. The equations relating the percentage removal of
... Show MoreThe present study was conducted to investigate effect of prey type on the relationship between age of females of Macrocyclops albidus and reproductive performance, which included each of mean number of nauplii, age at first brood, and age at first clutch. Results revealed that the correlation coefficient between the age at first brood and clutch and age of females fed on Artemia was significant P <0.05, being 0.65 and 0.81 respectively, while the correlations were not significant P>0.05 in females fed on mosquito larvae (Culex quinquefasciatus) and Paramecium nauplii. It was also found that the correlation coefficients between mean number of the nauplii and longevity in M. albidus were significant P<0.05 whereas, the correlations were not s
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