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 work aims to enhance acoustic and thermal insulation properties for polymeric composite by adding nanoclay and rock wool as reinforcement materials with different rations. A polymer blend of (epoxy+ polyester) as matrix materials was used. The Hand lay-up technique was used to manufacture the castings. Epoxy and polyester were mixed at different weight ratios involving (50:50, 60:40, 70:30, 80:20, and 90:10) wt. % of (epoxy: polyester) wt. % respectively. Impact tests for optimum sample (OMR), caustic and thermal insulation tests were performed. Nano clay (Kaolinite) with ratios ( 5 and 7.5% ) wt.% , also hybrid reinforcement materials involving (Kaolite 5 & 7.5 % wt.% + 10% volume fraction of rockwool ) were added as reinforcem
... Show MoreA field experiment was carried out during winter season of 2019-2020 at Al-Mhanawyah Research Station - Agriculture Research Directorate - Babylon Governorate / Iraqi, to study the gene expression of Sgr gene responsible for controlling the duration of staying green in varieties of wheat under effect of plant growth regulator during the two growth stages (vegetative and reproductive) by using quantitative reverse transcription-PCR (RT-qPCR) technique and achieving the highest grain yield for a number of wheat varieties. Randomized complete block design (RCBD) arranged according to split plots used with three replicates. The experiment included twelve wheat varieties (Saberbic, Al-Rasheed, Iraq, Tamoz-3, Al-Adnaniya, Babel, IPA-99, Al-Latife
... Show MoreThe aim of this investigation is to study and analysis the role of governance in the evaluation of the and social performance of the economic units to be addressed through the concept of corporate governance and then to the social performance and its relationship to corporate governance.
The most important obtained results from this research is that the corporate governance of extreme importance, and derive their importance from being an essential tool to contribute to the transparency and fair disclosure of the financial results of economic units in the fight against financial and administrative corruption in economic units, thus providing protection and confidence of all parties, and the evaluating soci
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The goal of the research is to diagnose some of the negative phenomena which was discovered through the period from (2010 to 2014) as determined by the national strategy to eliminate the corruption which was set out by the joint council of the corruption elimination in Iraq. And to measure the gap in applying the legal rules by the administration, concerning the misconducts and felonies upon the state employments made by the state employee and how far they are applied in the studied sample and to show the nature of the rules and their importance and their role when they are applied in scientific and expertise manner. And to encourage the offices of the general supervisors to adhere to them which will lead t
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Abstract This research deals with the definition of the concept of nodal purposes, And what is related to it, from its aim and importance, And for the purposes of the importance of Streptococcus In trying to understand the nodal truths For different minds, Especially with those who object to the introduction of belief in purposes studies, This research has two requirements: The first requirement: the concept and the aim of contractual purposes,It consists of two branches, The first is in the concept of nodal purposes, And it dealt with the definitions in terms of language and terminology And what we see is proportional to what aim |
The role of the climate in the development of the performance of the administrative bodies of sports clubs
The investment environment is the incubator for all types of domestic and foreign investments, so if their determinants are encouraging, they increase the levels of investment flows and vice versa, as there is a relationship between the nature of the investment environment and the level of investment flows, and the determinants of the investment environment are numerous and the most important of which are security and political stability, and economic and financial factors that include relative stability In the exchange rate and inflation rates, the availability of banks and their development, transparency and integrity in administrative dealings and the lack of prevalence of administrative and financial corruption, and the clari
... Show MoreThe current research aims to know the complementary use of the paper book and the digital book by defining the paper book and the digital book and knowing the methods and methods of obtaining each of them and indicating the extent of their use and for what purpose and knowing the difficulties that researchers face in using each of them and which is better using the paper book or the digital book in preparing research Studies and for no reason. The research relied on the descriptive approach and the questionnaire as a tool for data collection, and it was distributed to professors and students of Iraqi universities. The research sample reached (219) individuals and reached a set of results, the most important of which are: Preference for the
... Show MoreHuman witnessed over the centuries many of the important issues faced by the international community was centered on human rights in general and the persecution of refugees, especially according to many forms may be directly or indirectly leaves behind economic crises, social and humanitarian push world countries to rethink the mechanisms and the feasibility of developing agreements and laws and the role of international and regional organizations to protect peoplerefugeestatus.
Objective(s): To evaluate primary health care services at primary health care centers in Baghdad City and to compare between these primary health care centers relative to such quality. Methodology: A descriptive design, using the evaluation approach, is study to Evaluation of quality of primary care services at primary health care centers in Baghdad City. A multistage probability sample of (36) health care centers was selected. The sample consists of (12) model centers, (12) urban centers, and (12) rural centers.A constructedquestionnaire is composed of (23) items. It consisted of (5) parts that include inta