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 research aims to studying and analyzing the theoretical
framework of the environmental auditing in industrial environment to its a broad and danger environmental effects . It aims to contribute in setting and testing a proposed procedure framework for environmental auditing in that vital activity .The practical aspect focused on testing a proposed framework within practice it in a one Iraqi industrial company that has a huge effect on environmental activity, represented by Iraqi state company
The construction project is a very complicated work by its nature and requires specialized knowledge to lead it to success. The construction project is complicated socially, technically and economically in its planning, management and implementation aspects due to the fact that it has many variables and multiple stakeholders in addition to being affected by the surrounding environment. Successful projects depend on three fundamental points which are cost-time, performance and specifications. The project stakeholder's objective to achieve best specifications and the cost-time frame stipulated in the contract.
The question is, was the optimum implementation accomplished? The provision for the success of the project
... Show MoreA novel demountable shear connector for precast steel-concrete composite bridges is presented. The connector uses high-strength steel bolts, which are fastened to the top flange of the steel beam with the aid of a special locking nut configuration that prevents bolts from slipping within their holes. Moreover, the connector promotes accelerated construction and overcomes the typical construction tolerance issues of precast structures. Most importantly, the connector allows bridge disassembly. Therefore, it can address different bridge deterioration scenarios with minimum disturbance to traffic flow including the following: (1) precast deck panels can be rapidly uplifted and replaced; (2) connectors can be rapidly removed and replaced; and (
... Show MoreThe possible effect of the collective motion in heavy nuclei has been investigated in the framework of Nilson model. This effect has been searched realistically by calculating the level density, which plays a significant role in the description of the reaction cross sections in the statistical nuclear theory. The nuclear level density parameter for some deformed radioisotopes of (even- even) target nuclei (Dy, W and Os) is calculated, by taking into consideration the collective motion for excitation modes for the observed nuclear spectra near the neutron binding energy. The method employed in the present work assumes equidistant spacing of the collective coupled state bands of the considered isotopes. The present calculated results for f
... Show MoreThe aim of the study is to study the quality of services in a sample of the municipalities of Baghdad governorate and identify the deviations in their operations and provide solutions to address the causes of deviations. The research field aims at the same activity related to municipal services and their quality and analysis using some tools for continuous improvement to identify the authorities responsible for the delay and quality of services. In the future, the importance of research is shown by the use of these tools and their use and their application to the data of the directorates (sample of the study) to diagnose and treat problems, especially that they include statistical methods that are clear and easy to understand the
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Background: Acute appendicitis is a common surgical
problem that is associated with an acute-phase reaction.
Previous studies have shown that cytokines and acutephase proteins are activated and may serve as indicators for
appendicitis.
Objective: The aim of this study was to evaluate of serum
levels of interleukin-6 (IL-6) in correlation to the severity
to acute appendicitis.
Methods: This is a prospective study from December 2008
to March 2009 of patients who had appendectomy in
Department of Surgery, Al-Kindy Teaching Hospital -
Baghdad/Iraq. Serum for estimating levels of interleukin-6
(IL-6) was taken pre-operatively. Depending on the
macroscopic evidence during the operation and the
histopathol
In this research The study of Multi-level model (partial pooling model) we consider The partial pooling model which is one Multi-level models and one of the Most important models and extensive use and application in the analysis of the data .This Model characterized by the fact that the treatments take hierarchical or structural Form, in this partial pooling models, Full Maximum likelihood FML was used to estimated parameters of partial pooling models (fixed and random ), comparison between the preference of these Models, The application was on the Suspended Dust data in Iraq, The data were for four and a half years .Eight stations were selected randomly among the stations in Iraq. We use Akaik′s Informa
... Show MoreIn this research The study of Multi-level model (partial pooling model) we consider The partial pooling model which is one Multi-level models and one of the Most important models and extensive use and application in the analysis of the data .This Model characterized by the fact that the treatments take hierarchical or structural Form, in this partial pooling models, Full Maximum likelihood FML was used to estimated parameters of partial pooling models (fixed and random ), comparison between the preference of these Models, The application was on the Suspended Dust data in Iraq, The data were for four and a half years .Eight stations were selected randomly among the stations in Iraq. We use Akaik′s Informa
... Show More