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.
This study includes Estimating scale parameter, location parameter and reliability function for Extreme Value (EXV) distribution by two methods, namely: -
- Maximum Likelihood Method (MLE).
- Probability Weighted Moments Method (PWM).
Used simulations to generate the required samples to estimate the parameters and reliability function of different sizes(n=10,25,50,100) , and give real values for the parameters are and , replicate the simulation experiments (RP=1000)
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Ground Penetrating Radar (GPR) is a nondestructive geophysical technique that uses electromagnetic waves to evaluate subsurface information. A GPR unit emits a short pulse of electromagnetic energy and is able to determine the presence or absence of a target by examining the reflected energy from that pulse. GPR is geophysical approach that use band of the radio spectrum. In this research the function of GPR has been summarized as survey different buried objects such as (Iron, Plastic(PVC), Aluminum) in specified depth about (0.5m) using antenna of 250 MHZ, the response of the each object can be recognized as its shapes, this recognition have been performed using image processi |
This paper demonstrates the design of an algorithm to represent the design stages of fixturing system that serve in increasing the flexibility and automation of fixturing system planning for uniform polyhedral part. This system requires building a manufacturing feature recognition algorithm to present or describe inputs such as (configuration of workpiece) and built database system to represents (production plan and fixturing system exiting) to this algorithm. Also knowledge – base system was building or developed to find the best fixturing analysis (workpiece setup, constraints of workpiece and arrangement the contact on this workpiece) to workpiece.
Diamond-like carbon (DLC) homogeneous thin films were deposited from cyclohexane (Ccyclohexane (Ccyclohexane (Ccyclohexane (C cyclohexane (Ccyclohexane (Ccyclohexane (C cyclohexane (Ccyclohexane (C 6H12 ) liquid by using a plasma jet system which operates with alternating high voltage 7.5 which operates with alternating high voltage 7.5which operates with alternating high voltage 7.5which operates with alternating high voltage 7.5 which operates with alternating high voltage 7.5which operates with alternating high voltage 7.5which operates with alternating high voltage 7.5 which operates with alternating high voltage 7.5which operates with alternating high voltage 7.5 which operates with alternating high voltage 7.5which operates with al
... Show MoreAmplitude variation with offset (AVO) analysis is an 1 efficient tool for hydrocarbon detection and identification of elastic rock properties and fluid types. It has been applied in the present study using reprocessed pre-stack 2D seismic data (1992, Caulerpa) from north-west of the Bonaparte Basin, Australia. The AVO response along the 2D pre-stack seismic data in the Laminaria High NW shelf of Australia was also investigated. Three hypotheses were suggested to investigate the AVO behaviour of the amplitude anomalies in which three different factors; fluid substitution, porosity and thickness (Wedge model) were tested. The AVO models with the synthetic gathers were analysed using log information to find which of these is the
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... Show MoreIn this study, gold nanoparticles were synthesized in a single step biosynthetic method using aqueous leaves extract of thymus vulgaris L. It acts as a reducing and capping agent. The characterizations of nanoparticles were carried out using UV-Visible spectra, X-ray diffraction (XRD) and FTIR. The surface plasmon resonance of the as-prepared gold nanoparticles (GNPs) showed the surface plasmon resonance centered at 550[Formula: see text]nm. The XRD pattern showed that the strong four intense peaks indicated the crystalline nature and the face centered cubic structure of the gold nanoparticles. The average crystallite size of the AuNPs was 14.93[Formula: see text]nm. Field emission scanning electron microscope (FESEM) was used to s
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