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.
Novel has recently received the attention of readers and writers greatly, because of the role they play, and this indicates an important rule, which is whenever there is an art or creativity, there must be a respective criticism, and this criticism is certainly not less important than the author. So there are critics who have a prestigious literary position in the follow-up story development, and trying to describe the transformation of its elements. One of these critics is professor Fadhel Thamer, and who wants to approach one of the elements of the novel exploring, must stop on the visions of this critic about it , and that’s why we take the (character) element following the most important opinions of this critic about
... Show MorePlantation of humic acid nanoparticles on the inert sand through simple impregnation to obtain the permeable reactive barrier (PRB) for treating of groundwater contaminated with copper and cadmium ions. The humic acid was extracted from sewage sludge which is byproduct of the wastewater treatment plant; so, this considers an application of sustainable development. Batch tests signified that the coated sand by humic acid (CSHA) had removal efficiencies exceeded 98 % at contact time, sorbent dosage, and initial pH of 1 h, 0.25 g/50 mL and 7, respectively for 10 mg/L initial concentration and 200 rpm agitation speed. Results proved that physicosorption was the predominant mechanism for metals-CSHA interaction because the sorption data followed
... Show MoreBleeding disorders in pediatrics is an important issue and can be lifethreatening if not diagnosed and treated appropriately. We aimed to evaluate Iraqi pediatric practice (as an example of resource-limited settings) about the use of Recombinant Activated Factor VII (RFVIIa) in bleeding disorders, with emphasis on its effectiveness and safety, in comparison with adjuvant therapy. Budget restrictions may affect the availability of even lifesaving drugs such as (RFVIIa). Therefore, we tried to investigate the local experience of pediatric bleeding, with the evaluation of the potential ability of adjuvant therapy of blood products and vitamin K to substitute RFVIIa in case of non-availability. During a complete one year‘s period, 35 patients
... Show MoreDue to the development that occurs in the technologies of information system many techniques was introduced and played important role in the connection between machines and peoples through internet, also it used to control and monitor of machines, these technologies called cloud computing and Internet of Things. With the replacement of computing resources with manufacturing resources cloud computing named converted into cloud manufacturing.
In this research cloud computing was used in the field of manufacturing to automate the process of selecting G-Code that Computer Numerical Control machine work it, this process was applied by the using of this machine with Radio Frequency Identification and a AWS Cloud services and some of py
... Show MoreThe essay investigates the rise and development of the prose poem form in Iraqi poetry in the period during and after the 1980s Iraq–Iran war. The essay follows the legacy of Western experiments with form following the First World War and their impact on the development of form in Iraqi poetry culminating in the prose poem. The dominance of this form on poetic development in this period has a close relationship with the experience of warfare and the ensuing of the cultural changes in Iraq after 1980. Poets of the 1980s war used poetic form as a means of dissent. The prose poem became for them an inherently subversive form that reflected their disaffection with the political, cultural, and literary conflicts of the time. The prose poem in
... Show MoreABSTRACT Background: chronic periodontitis and rheumatoid arthritis are widely prevalent diseases and are characterized by tissue destruction due to chronic inflammation. Recently, there is growing evidence that the two diseases share many pathological features the aims of the study To determine the periodontal health status in patient have chronic periodontitis with rheumatoid arthritis and compare it with those having chronic periodontitis without Rheumatoid arthritis and determine the serum levels of interleukin -17(IL-17), tumor necrosis factor- alpha (TNF-α ) in both groups and compare with the control group (subject samples neither have periodontitis nor arthritis ) and correlate these immunological markers with the periodontal p
... Show MoreThe Child is the first sedum for the human society performing, and we deal in our
research to explain the nature of the mutual relations in between the form and the medicine
social caring foundation. So the motherhood and the childhood nowadays become the most
dedicated in the researchers works, whom interesting in the social affairs, and that whom
work in the medicine field as scientists.
So the child is the future man and must be in wright body construction that need to great
care and interest to make him wright mind through capability of performing anything support
to him.
In our research we deal with the main factors in which lead to infect the child by the
creative malfunction, like the environmental and m
Abstract
The current research aims to examine the effectiveness of a training program for children with autism and their mothers based on the Picture Exchange Communication System to confront some basic disorders in a sample of children with autism. The study sample was (16) children with autism and their mothers in the different centers in Taif city and Tabuk city. The researcher used the quasi-experimental approach, in which two groups were employed: an experimental group and a control group. Children aged ranged from (6-9) years old. In addition, it was used the following tools: a list of estimation of basic disorders for a child with autism between (6-9) years, and a training program for children with autism
... Show MoreKE Sharquie, AA Noaimi, AF Hameed, Journal of Cosmetics, Dermatological Sciences and Applications, 2013 - Cited by 11