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.
The provisions of the monkey in Islamic jurisprudence
After the use of trust in God, and after the completion of my research called (the legislative miracle in the light of Surat), which studies the miracle in general and then unique legislative miracle, which was the largest share of the research where I built my research on several topics dealt with in the first topic: definition of miracles language and terminology and address Also discussed the Quran and the challenge and miracles and the status of the Arabs in the eloquence and eloquence, and then the literature in the miracle and dealt with legislation based on the foundations of individual education, family building, community building, and the most important advantages of Islamic legislation and presented some examples of legislativ
... Show MoreThe movement is considered one of the important factors which attracts the receiver attention in designing artificial works in general, and especially in the advertisements, moreover the subject of the movement in the designing advertisements needs more care and study by the scholars. From this importance and from reaching to the basic streams of the research topic (the effect of the movement in the graphic design) the problem of the research has been set according to the following wonder:
- What is the designing process that establishes the movement in the commercial advertisements designs?
The researche
... Show MoreThis research deals with the topic (Fantasy Parody in the Design of the Advertisement) in view of the important role that fantasia plays in designing the most creative and attractive advertisements to the recipients. The research problem lies in accordance with the following question:
What is the Fantasy Parody in the Design of the Advertisement?
It means the imagination, the unfamiliar; and features that emerge for it that distinguish it from other concepts. Fantasy advertisement is creativity in innovative ways, either through collage, merging, or the use of various artistic expressions in terms of intellectual and cultural awareness. When uses in the parody of advertisement, it has helped to come up with an aesthetic experie
The lexical connotation is one of the types of connotation that linguists have dealt with, and stipulated in their studies, meaning access to the real meanings of the words, that the lexicon can address after tracing the real meaning of the metaphorical meanings, if any, and this is known to the semantics additional significance, and the rhetorical meaning Figuratively.
The miraculous Qur'an in its systems often refers to the metaphorical uses of the words as well as the real use. The significance of the words in the Holy Qur'an came in a variety of contexts, making each word a special significance that belongs to it exclusively. This is the miracle of the Holy Qur'an. The coming of the slow walk, with its eight words (came, came, cam
The study of the (dualist antagonism) of a poet, will be determined by the poet's potential, and according to the system of concepts and creativity, and this means that there is a difference between the rooting of the meaning and its roots, and poetic sources by tracking the poets and their attitudes.
Therefore, poetry is a variable function according to the values of the movement, which is the freedom and continuous fuel. With these units of measurement, can measure the dose (Ahmed Bakheet) of freedom and mechanisms of investment, Bakheet (moment) of the time of hair dimensions of the limits of his experience. This is what the researchers will address in their research.
The current study aimed to determine the relation between the lead levels in the blood traffic men and the nature of their traffic work in Baghdad governorate. Blood samples were collected from 10 traffic men and the age about from 20-39 year from Directorate of Traffic Al Rusafa/ Baghdad and 10 samples another control from traffic men too with age 30-49 year and they livedrelatively in the clear cities or contained of Very few traffic areas. The levels of lead in blood estimated by used Atomic Absorption Spectrometry.
The result stated that there is no rising of the levels of lead in blood of traffic men Lead concentration was with more a range from 14 ppm in Traffic police are not healthy They are within the permissible limits, Ap
The increasing efficiency of the telecommunications network in the city contributes to the increase in spatial interaction between activities (to influence and mutual influence) This study is based on the idea that the upgrading of telephone services provided to citizens are done exclusively through the growth and development of all levels of the service using advanced technologies to know the problems and appropriate solutions in short time and less cost. Thus, crystallized the objectives of the study which was built for the importance of GIS in the planning of services in general, and infrastructure services, in particular, including telephone services, which is represent a point of contact between individuals on the one hand a
... Show MoreThe follower to study the markets in the Islamic Mashreq (Iraq, Persia and the country of Ma
Behind the river for the period from the reign of the Prophet Muhammad until the end of the Islamic era) to find that there
A remarkable development in the pattern, shape, planning and privatization of markets
Islamic cities and places are the main conditions for their existence, which is the mosque of the mosque
And markets, and these markets have evolved from being a space in which there are no building and no ceilings to shade them in
The places of sale and purchase to specialized markets classified according to the materials and goods produced in them
This would facilitate the task of supervising it by the market factor and
The skill high-jump scoring is based on mechanical and physical abilities. The most important of all is the strength used by the player from the moment of preparation to the moment of scoring, which led the researchers to study the characteristics of the series of power chain functions of this skill according to (Biosyn System) The players of the national team's back line have a handball to find out the relationship between the properties of the power chain curve and the accuracy of the high jump to the upper and lower target angles. The aim of the research was to identify the values of the Force Series variables for the skill of the high-jump curve of the handball as well as the relationship between the properties of the power chain functi
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