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.
Due to the development that occurs in the technologies of information system many techniques was introduced and played important role in the connection between machines and peoples through internet, also it used to control and monitor of machines, these technologies called cloud computing and Internet of Things. With the replacement of computing resources with manufacturing resources cloud computing named converted into cloud manufacturing.
In this research cloud computing was used in the field of manufacturing to automate the process of selecting G-Code that Computer Numerical Control machine work it, this process was applied by the using of this machine with Radio Frequency Identification and a AWS Cloud services and some of py
... Show MoreThis study examines patterns of exposure of Iraqi university students to selective daily Iraqi newspapers and the motives of this exposure, as well as its associated factors that affect the average exposure. It tries to answer several questions, including those related to the levels of exposure of Iraqi university students to daily Iraqi newspapers and classification of patterns of selective exposure to daily Iraqi newspapers and the most prominent Iraqi daily newspapers that are selectively exposed by Iraqi university students. It also examines the motives of this selective exposure and factors that increase the degree of exposure to the daily Iraqi newspapers, and the most prominent stages in which Iraqi university students find their
... Show MoreKE Sharquie, AA Noaimi, GA Ibrahim, AS Al-Husseiny, Our Dermatology Online, 2016 - Cited by 3
أن الثورة الرقمية أصبحت اليوم واقع حتمي نعيشه من حيث القت بظلالها على مختلف جوانب الحياة، ولم يخل المسرح من هذا التأثير وخاصة في ظهور ملامح ما بعد الحداثة بكل ما تحملهُ من رؤى فكرية وفلسفية وجمالية، مع ذلك التطور التكنولوجي في هذا السياق يسعى المسرحيون والمخرجون والممثلون الى تأسيس علاقات فاعلة مع شبكات الانترنيت والوسائط الرقمية مما ظهر العديد من المواقع المهتمة بالمسرح. من هنا ظهرت اهمية الربط بين الث
... Show MoreThe influence of an aortic aneurysm on blood flow waveforms is well established, but how to exploit this link for diagnostic purposes still remains challenging. This work uses a combination of experimental and computational modelling to study how aneurysms of various size affect the waveforms. Experimental studies are carried out on fusiform-type aneurysm models, and a comparison of results with those from a one-dimensional fluid–structure interaction model shows close agreement. Further mathematical analysis of these results allows the definition of several indicators that characterize the impact of an aneurysm on waveforms. These indicators are then further studied in a computational model of a systemic blood flow network. This demonstr
... Show MoreThree N-(hydroxylphenyl) dimethylmaleimides were directly prepared in good yields (81-86)% from the reaction of dimethylmaleic anhydride with amino phenols. The prepared imides were esterified to the corresponding benzoates, methacrylates and cinnamates via their reaction with different acid chlorides in the presence of triethylamine. The prepared esters were tested as plasticizers for PVC via preparing of thirty six samples of PVC with the prepared esters in certain weight ratio followed by recording their softening points. Comparison the results with the universal plasticizers for PVC (DOP) and (DBP) indicated that the prepared esters in general have high plasticizing efficiency.
The high carbon dioxide emission levels due to the increased consumption of fossil fuels has led to various environmental problems. Efficient strategies for the capture and storage of greenhouse gases, such as carbon dioxide are crucial in reducing their concentrations in the environment. Considering this, herein, three novel heteroatom-doped porous-organic polymers (POPs) containing phosphate units were synthesized in high yields from the coupling reactions of phosphate esters and 1,4-diaminobenzene (three mole equivalents) in boiling ethanol using a simple, efficient, and general procedure. The structures and physicochemical properties of the synthesized POPs were established using various techniques. Field emission scanning elect
... Show MoreAnger is one of the problems of scientific importance that psychologists and education scientists are interested in, especially societies and educational environments, because if a child’s anger continues to develop into violence, then it becomes an unusual behavior, and an indication of the child's lack of adaptation to his family and his environment (Moses, 2013: 4) &n
... Show More