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.
Manganese dioxide rotating cylinder electrode prepared by anodic deposition on a graphite substrate using MnSO4 solution in the presence of 0.918 M of H2SO4. The influence of different operational parameters (MnSO4 concentration, current density, time, and rotation speed) on the structure, and morphology of MnO2 deposit film was examined widely. The structure and crystal size determined by X-ray diffraction (XRD), the morphology examined by scanning electron microscopy (SEM) and atomic force microscopy (AFM) techniques. The γ-MnO2 obtained as the main product of the deposition process. It found that the four parameters have a significant influence on the structure, morphology, and roughness of the prepared MnO2 deposit. The crystal size in
... Show MoreThe issue of penalized regression model has received considerable critical attention to variable selection. It plays an essential role in dealing with high dimensional data. Arctangent denoted by the Atan penalty has been used in both estimation and variable selection as an efficient method recently. However, the Atan penalty is very sensitive to outliers in response to variables or heavy-tailed error distribution. While the least absolute deviation is a good method to get robustness in regression estimation. The specific objective of this research is to propose a robust Atan estimator from combining these two ideas at once. Simulation experiments and real data applications show that the p
... Show MoreGingival crevicular fluid (GCF) may reflect the events associated with orthodontic tooth movement. Attempts have been conducted to identify biomarkers reflecting optimum orthodontic force, unwanted sequallea (i.e. root resorption) and accelerated tooth movement. The aim of the present study is to find out a standardized GCF collection, storage and total protein extraction method from apparently healthy gingival sites with orthodontics that is compatible with further high-throughput proteomics. Eighteen patients who required extractions of both maxillary first premolars were recruited in this study. These teeth were randomly assigned to either heavy (225g) or light force (25g), and their site specific GCF was collected at baseline and aft
... Show MoreIn this paper, we calculate and measure the SNR theoretically and experimental for digital full duplex optical communication systems for different ranges in free space, the system consists of transmitter and receiver in each side. The semiconductor laser (pointer) was used as a carrier wave in free space with the specification is 5mW power and 650nm wavelength. The type of optical detector was used a PIN with area 1mm2 and responsively 0.4A/W for this wavelength. The results show a high quality optical communication system for different range from (300-1300)m with different bit rat (60-140)kbit/sec is achieved with best values of the signal to noise ratio (SNR).
In this paper, a least squares group finite element method for solving coupled Burgers' problem in 2-D is presented. A fully discrete formulation of least squares finite element method is analyzed, the backward-Euler scheme for the time variable is considered, the discretization with respect to space variable is applied as biquadratic quadrangular elements with nine nodes for each element. The continuity, ellipticity, stability condition and error estimate of least squares group finite element method are proved. The theoretical results show that the error estimate of this method is . The numerical results are compared with the exact solution and other available literature when the convection-dominated case to illustrate the effic
... Show MoreObjective: To determine the quality assurance for maternal and child health care services in Baghdad City.
Methodology: A descriptive study is conducted throughout the period of November 28th 2008 to October 10th
2009. A simple random sample of (349) is selected through the use of probability sampling approach. The study
sample was divided into four groups which include (220) consumers, (35) medical staff, (72) nursing staff and (22)
organization structure (primary health care centers). Data were collected through the use of assessment tools. It was
comprised of four questionnaires and overall items included in these questionnaires are (116) items. The study
included assessment of organization structure. Data were colle
Friction stir spot welding (FSSW) is a relatively new welding process that may have significant advantages compared to the fusion processes as follows joining of conventionally non-fusion weldable alloys, reduced distortion and improved mechanical properties of weldable alloys joints due to the pure solidstate joining of metals. In this paper, a three-dimensional model based on finite element analysis is used to study the thermal history in the spot-welding of aluminum alloy 2024. The model take place the thermomechanical property on the process of the welded metals. The thermal history and the evolution results with numerical model at the measured point in the friction stirred spot weld have a good matching, then the prediction of the t
... Show Moreobjective : To assess for Psychological Problems. The study was carried out from 1st of December 2004 to 15th
March, 2005.
Mythology : A descriptive comparative study was conducted for elder in the geriatric home and the community;
A questionnaire was constructed to achieve the purposes of the study; it includes two parts dealing with the
elder demographic characteristics and psychological problems.
A purposive (no probability) sampling of (100) elderly include (50) elderly from the Geriatric Home and (50)
elderly from the community.
Data were collected and analyzed through a descriptive statistical approach (frequency, percentage, mean and
mean of scores, Standard deviation, Relative Sufficiency).
Result : the
Many approaches of different complexity already exist to edge detection in
color images. Nevertheless, the question remains of how different are the results
when employing computational costly techniques instead of simple ones. This
paper presents a comparative study on two approaches to color edge detection to
reduce noise in image. The approaches are based on the Sobel operator and the
Laplace operator. Furthermore, an efficient algorithm for implementing the two
operators is presented. The operators have been applied to real images. The results
are presented in this paper. It is shown that the quality of the results increases by
using second derivative operator (Laplace operator). And noise reduced in a good