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.
Glaucoma is a visual disorder, which is one of the significant driving reason for visual impairment. Glaucoma leads to frustrate the visual information transmission to the brain. Dissimilar to other eye illness such as myopia and cataracts. The impact of glaucoma can’t be cured; The Disc Damage Likelihood Scale (DDLS) can be used to assess the Glaucoma. The proposed methodology suggested simple method to extract Neuroretinal rim (NRM) region then dividing the region into four sectors after that calculate the width for each sector and select the minimum value to use it in DDLS factor. The feature was fed to the SVM classification algorithm, the DDLS successfully classified Glaucoma d
HM Al-Dabbas, RA Azeez, AE Ali, Iraqi Journal of Science, 2023
The current study aims to investigate the second cycle students’ motives for using electronic games in Oman. The sample consisted of (570) students, (346 males and 224 females). The participants completed an open-ended question which was analyzed based on ground theory. The results showed that (46.820%) of the males and (77.678) of the females played electronic games for pleasure, entertainment, and fun. This first category of motivation got the highest percentage of frequency (58.947%). The motive to become a hacker, a popular YouTuber got the lowest percentage (2.280%). Other students’ motives toward playing electronic games included: filling the leisure time, overcoming boredom, feeling adventures, getting science fiction and chal
... Show MorePortable devices such as smartphones, tablet PCs, and PDAs are a useful combination of hardware and software turned toward the mobile workers. While they present the ability to review documents, communicate via electronic mail, appointments management, meetings, etc. They usually lack a variety of essential security features. To address the security concerns of sensitive data, many individuals and organizations, knowing the associated threats mitigate them through improving authentication of users, encryption of content, protection from malware, firewalls, intrusion prevention, etc. However, no standards have been developed yet to determine whether such mobile data management systems adequately provide the fu
... Show MoreThe research aims to identify the educational values prevailing in the small kinetic games for the children of Riyadh, and to categorize the educational values of the kinetic games small children Riyadh. The research analyzed the content of a number of small kinetic games that included studied physical education at the two pre-kindergarten and stipulated by the Platform for kindergartens, which is being applied. The content analysis was used by analysts agreement with themselves over time (21) days. The agreement between the external researcher and analyst. The researcher used the Cooper to extract equation lab agreement between the researcher and the outside analyst, has reached agreement on determining factor idea and label values (0.8
... Show MoreThe bit record is a part from the daily drilling report which is contain information about the type and the number of the bit that is used to drill the well, also contain data about the used weight on bit WOB ,revolution per minute RPM , rate of penetration ROP, pump pressure ,footage drilled and bit dull grade. Generally we can say that the bit record is a rich brief about the bit life in the hole. The main purpose of this research is to select the suitable bit to drill the next oil wells because the right bit selection avoid us more than one problems, on the other hand, the wrong bit selection cause more than one problem. Many methods are related to bit selection, this research is familiar with four of thos
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The problem with the search at the reduction of adoption of new products, as there are three hypotheses of research have been formulated , the first one is no significant correlation between the religious and differences to customers and adopt new products, and This Study Aimed To Investigate The Relationship Between Religious differences for customers And New Products Adoption, Applied On Arab Mall Commercial Customers/ Egypt, an Analytical Model Is Developed As Guideline To Test The The Relationship Between Religious differences for customers And New Products Adoption, Aquantative Method With Deductive Approach Were Chosen In This Research . In Order To Collect Primary Data, A questionnaire Is
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