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 costume is a language that has carved itself into a path that is transformed over time in line with the development of human thought. The child theater is a form of communication between the individual and his society. The costume in the child's theater is seen as a sign of personality and identity. It is a model of communication that uses many of the world systems to which it belongs. Directed to the child by invoking the creative and creative energies of the designer in the formation of the children's theater. The second topic was the communicative function of secondary signs of uniforms and patterns of their transformations. The theoretical framework of the indicators included the on the research community. And his tools in the an
... Show MoreThis research deals with the most important grammatical views of the science of the media of the Arab and Andalusian grammar is: Abu Ali al-Shloubini, who filled his name the pages of important grammatical books such as: (singer Al-Labib) Ibn Ibn Hisham, and the book (like and analogues), and (Hama Alhwama) for Suyuti, and other books The task, I have divided my research into the topics: I talked in the first section on his life and his biography and his works, and the second topic: it included his independent opinions and the third section contained the most prominent views selected The fourth and final topic, was his responses to grammarians, and concluded my research with the most prominent findings Research to them, which was the mos
... Show MoreThe process of discovering pharmaceuticals is of great importance in our contemporary life, in a way that without life becomes almost impossible, as this process is the first building block in the field of pharmaceutical industries to search for new methods and means of treatment and treatment. This process results in the commitment of the discoverer to a set of obligations in the face of the volunteer. This responsibility or negation of intentional infliction of damage by means of what is known in the law as methods of paying liability
An update of our research is the first to develop and reform the agricultural sector . and promoting production and productivity of this sector multi-sources , which is the management and beekeeping one source . Been applied to the style of beekeeping mobile promiscuous includes twentieth cell in the Iraqe project of mussiab . in which there exist a variety of crops and trees .
Experiment had proved successful and led to raise the level of npoduction of single Dell of the honey to 49 kg over the previous year and surpassed the average production percell in the province of Babylon , which the amount of 13.945 kg , another
... Show MoreTrends in the teaching of Spanish in terms of diatopic variables have had a significant change around the world, thanks to the evolution of technology, teaching approaches, processes and methods, pan-Hispanic policies and the reason why a person studies this language, which has caught the attention of linguistic researchers who teach Spanish around the world. Hence, the objective of this research is to show the scientific production regarding opinion trends in the teaching-learning processes of diatopic variables in the Ele classroom indexed in Scielo, Dialnet plus, Redalyc.org, Dialnet. unirioja .es, Researchgate.net, and Google Scholar, Thematic analysis was used to analyze the opinions of linguistic researchers. Of the 6 articles analyze
... Show MoreBack ground: In the present study Pinealoctomy
was used to study the sympathetic innervations of
the pineal gland by the superior cervical ganglion
(SCG) of the albino rat.
Objective: Following Pinealoctomy, it is
expected to observe the Chromatolysis reaction in
some neurons of the SCG if they were to innervate
the pineal gland (i.e. retrograde Chromatolysis
changes).
Methods: Fifty albino rats were used in this study,
Pinealoctomy was done, then after a different time
interval ganglionectomy was done, in order to
study the Chromatolysis in their cell body.
Result: The present study has demonstrated that
the most obvious Chromatolysis reaction in the
neurons which innervate the pineal gland a
Galway Kinnell (1927-) is considered as one of the most important contemporary American poets who brought about a drastic change in the American poetry of the nineteen sixties. Kinnell's poetry is characterized by being simple in style and deep in content. Poetry for him is a means through which he perceives the inner levels of consciousness in an attempt to comprehend the depths of the American self. Therefore, he writes narrative poems in which the emphasis is not on the rhetorical effects, but on the inner transformations through which the poet goes.
"The Bear" (1968) is typical of Kinnell's introspective poetry. It takes the form of a journey in which the rituals of hunting are used allegorically to embody the state of the sp
... Show MoreThe research deals with A very important two subjects, computer aided process planning (CAPP) and Quality of product with its dimintions which identified by the producer organization, the goal of the research is to Highlight and know the role of the CAPP technology to improve quality of the product of (rotor) in the engines factory in the general company for electrical industries, The research depends case study style by the direct visits of researcher to the work location to apply the operational paths generated by specialized computer program designed by researcher, and research divides into four axes, the first regard to the general structure of the research, the second to the theoretical review, the t
... Show More