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.
KE Sharquie, A Noaimi, W Al-Janabi, American Journal of Dermatology and Venereology, 2014 - Cited by 4
In order to reduce the losses due to evaporation in the stored crude oil and minimizing the decrease in °API many affecting parameters were studied (i.e. Different storage system, namely batch system with different types of storage tanks under different temperatures and:or different pressures). Continuous circulation storage system was also studied. It was found that increasing pressure of the inert gas from 1 bar to 8 bar over the surface of the crude oil will decrease the percentage losses due to evaporation by (0.016%) and decrease the change of °API by (0.9) during 96 hours storage time. Similarly using covering by surfactant (potassium oleate) or using polymer (polyurethane foam) decreases the percentage evaporation losses compare
... Show MoreThe aim of the research is to identify the attitudes of Iraqi youth
towards volunteering work by using the survey method and the scale
tool to identify what young volunteers can carry from the attitudes
towards volunteering work because the phenomenon of volunteer
work is of great importance in society. The scale was applied to
(525) volunteers among Iraqi youth. The research reached a set
of results, the most prominent of which is the existence of positive
trends among young people towards volunteering work, meaning
that Iraqi youth volunteers have awareness of the concept of
volunteering correctly. As for their goals of volunteering, they are
humanitarian and social goals for the advancement of society, an
the mental image is so important in human life as one of the major standers for his trends and behavior, and as the human nature requires to interest in things based on how much it’s close to and how much it effects on his interest, So the neighborhood countries was one of the topics that occupied the attention of the Iraqi individual and pushed him to form perceptions of them based on the cultural heritage and the historical relations of Iraq with these countries as well as the actions of neighboring countries on Iraq and the resulting effects on the course of events. the mental image is so important in human life as one of the major standers for his trends and behavior, and as the human nature requires to interest in things bas
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1-the operation of dropping of zeroes must be associated with increase of the sharing of economic sectors wi
... Show MoreWithin connected speech, RP speakers tend to shorten stressed long vowels end diphthongs in pre. Forties consonants in the same syllable on the basis of complementary Distribution, i.e., the phonological environment decides the influence of the forties plosives and fricatives, as far as they are in find position preceded by stressed long vowels and diphthongs, or particular voiced consonants plus vowels. The Iraqi learners, then, face.
The research deals with a very important issue that affects women, an important segment of the society. This is because women are the basis of the family and the pillar of the society. Thus, the aim of the research is to examine the level and dimensions of the emotional and existential psychological crisis at the sample of the study. It further aims to investigate the statistical significant difference at the level of (0.05) regarding the feeling of the existential psychological crisis among battered and non-battered women. To reveal the objectives of the study, the researcher applied the existential psychological crisis scale to a sample of (72) women, divided into two groups: (35) battered women, who have been chosen purposefully. Thos
... Show MoreThe study problem is about the role of Shaqra University in building the mental image of the Kingdom’s 2030 vision among its female students. The study aims to examine the university’s role in providing information about the Kingdom’s 2030 vision, its role in shaping the vision’s image, the university’s role in the behavioral aspect of the vision, along with studying the extent of differences in answers of the sample individuals towards the study themes attributed to the personal variables. The researcher adopted the descriptive survey method. A sample of (1399) female students was used to achieve the study objectives. The results showed that university’s role in building the mental image of the Kingdom’s 2030 vision, among
... Show MoreBackground: Non-nutritive sucking habit (NNSH) is the main environmental causative factor that disturbs normal orofacial development. In spite of the harmful effect of pacifier as a NNSH, mothers aware from the other types of NNSH like thumb sucking far more than pacifier use. Open bite is one of the most challenging malocclusions in orthodontics due to the high prevalence of relapse after treatment, so preventing the causative factor of its occurrence is essential at early age of child life. This study aims to assess the impact of two non-nutritive patterns on the development of anterior open bite in primary dentition and to compare which of these habits mostly affect open bite development. Materials and Methods: The sample consisted of
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The Diyala State Company for Electrical Industries was chosen as a field of research for its role in providing distinguished products as well as the development and growth of its products and quality, and because it produces many products, and the study period was limited to ten years, from 2010 to 2019. This study used the descriptive approa
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