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.
Relations of the prophets Muhammad (May peace be upon him) with by
gantlines from the revelation to the trance of al-hdybya 6 A.H/610 A.C.
This research is concerned with Islamic historical events, particularly dunning
the time of the prophet Muhammad. It also explores relations of the apostle of god
with the rums and their allies the Arabs of Syria.
During the first years of revelation Muslim had achieved great victories
against the unbelievers. This accomplishm-ent had draw attention of some foreign
forces such as the Arabs of Syria, who became snapicions of this new and active
power. Their hostile attend was demonstrated by striking an economical siege against
Muslims. They attacked the nabtins merchants who
Autoría: Jehan Faris Yousif. Localización: Opción: Revista de Ciencias Humanas y Sociales. Nº. 89, 2019. Artículo de Revista en Dialnet.
Several studies have indicated an unprecedented increase in the number of Arab youth who watch music videos. It is also a custom in Arab countries to broadcast songs at their happy parties such as weddings, engagements and birthdays. We see that guests and party owners interact by dancing and singing with the songs, while the viewership rates of Arab music videos have reached millions on YouTube. The researcher decided to study the image of women through the lyrics of these songs, due to their importance in shaping the image of women in the minds of young people and shaping the (self-image) of young women. Twenty songs were selected from the most watched songs on YouTube for the year 2024, and it was found that the negative qualities of t
... Show MoreThis study presents a mathematical model describing the interaction of gut bacteria in the participation of probiotics and antibiotics, assuming that some good bacteria become harmful through mutations due to antibiotic exposure. The qualitative analysis exposes twelve equilibrium points, such as a good-bacteria equilibrium, a bad-bacteria equilibrium, and a coexisting endemic equilibrium in which both bacteria exist while being exposed to antibiotics. The theory of the Sotomayor theorem is applied to study the local bifurcation around all possible equilibrium points. It’s noticed that the transcritical and saddle-node bifurcation could occur near some of the system’s equilibrium points, while pitchfork bifurcation cannot be accrued at
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The philosopher and social psychologist Erich Fromm (1900-1980), in his book "Escape from Freedom" highlighted the distinction between the "I" of the authoritarian personality and the "I" of the destructive personality based on their stance towards "the other." The former (the authoritarian self) relies on a submissive, enslaving formula, where the "I" is the master/dominator/controller/strong, while "the other" is the servant/submissive/controlled/weak, essential for perpetuating this formula. In contrast, the latter (the destructive self) relies on an annihilating, negating formula, where the "I" is existence/killer/destroyer/pe
... Show MoreThe Nuclear structure of 110-116Cd isotopes was studied theoretically in the framework of the interacting boson model of IBM-l and IBM-2. The properties of the lowest mixed symmetry states such as the 1+, 2+ and 3+ levels produced by the IBM-2 model in the vibrational-limit U(5) of Cd - isotopes are studied in details. This analysis shows that the character of mixed symmetry of 2+ is shared between and states in 110-114Cd – isotopes, the large shar goes to s, while in isotope, the state is declared as a mixed symmetry state without sharing. This identification is confirmed by the percentage of F-spin contribution. The electromagnetic properties of E2 and Ml operators were investigated and the results were analyzed. Various
... Show MoreThe research aims to shed light on the role of SAIs and the nature of their work, with the definition of the concept of quality reports and to clarify the reality of quality in the FBSA reports, the researchers reached to conclusions, including: The quality of the SAI reports is a requirement seeks to achieve any regulatory system in order to develop audit work output of the form in which its impact is reflected positively on the performance of the entities controlled, and researchers gave a set of recommendations, including: the need to increase community awareness of the importance of the FBSA Supervisory reports through conferences, seminars and workshops and that FBSA to follow-up reports, and check the quality continuously to the fa
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This takes research idea representations body in the works of artist Lisa Fattah al -Turk, and the qualities that represent them in the configuration and method of performance in order to achieve an important element in the development of the concepts of knowledge and cultural rights within the surface of the artwork including the body shape of his presence authority dominant in the history of art so it was for this audience motives Self , cultural , and part of the confirmation of the human side, and serves as a conveyor of ideas and diagnostic her.Search theme is determined to attend the address of the body in the works of artist Lisa Fattah al -Turk , a comparison in how the audience and what it will be , so Researcher seeks drilling
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