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.
במחקר הזה ניתחנו מספר נאומים של שמעון פרס, אנחנו התמקדנו בהשפעה והשכנוע אצל שמעון פרס ואיך הוא יכול להעביר את המסרים של נאומיו בסגנון פרגמטי כדי להגיע ללבו של הציבור.
גם כן, התמקדנו בסגנון הפוליטי שהוא חושב כי התחום הזה צריך להיות ברור מול הציבור וגם כן מול דעת הקהל הבינלאומי מתוך השימוש במונחים בעלי השפעה ושכנוע להגיע למטרות המבוקשות.
במלים אחרות, שמעון פרס, לעתים, מתמקד בשפה מליצית ויעמוד הרב
... Show MoreThe research dealt with the design of the cost accounting system for the transport service and its Role in improving the efficiency of pricing decisions through the application of the cost system based on ABC activities. The main activities were defined and cost guides were to measure the cost of each service and to determine the cost of each service for the purpose of providing management with appropriate information and pricing decisions The problem of research in the lack of adoption by some public companies in the service sector on the cost accounting system to calculate the cost of service as well as the lack of identification of productive activities and service activities and therefore cannot make the appropriate decision t
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The research revolves around the collection of pending hadiths on Abdullah bin Amr bin Al-Aas, may God be pleased with them, and it is required in these hadiths that they be among those in which there is no room for diligence, such as telling about unseen matters, signs of the Hour, or a statement of virtue and reward for obedience, or punishment for disobedience.
The research consists of an introduction, two topics, and a conclusion of the first topic in the translation of Abdullah bin Amr bin Al-Aas, and the second topic, the pending hadiths of Abdullah bin Amr bin Al-Aas, may God be pleased with them, in which there is no room for diligence in collecting and studying
At the end of this rese
Colonialism as a movement was very popular in Europe more than two centuries before. It aimed at controlling and exploiting several countries in Africa and Asia in addition to imposing their power and control on uninhabited islands. It received adherence and criticism as well. There also appeared activists and nations who stood against it and its practices. English novels discussed this notion greatly by pointing out the bad practices of the colonizers and how the colonized received them. This paper explores two narrative fictions that tackle the different aspects of the term. While Defoe, in Robinson Crusoe (1719), shows a colonial European figure who expresses his superiority, Wells, in “The Country of the Blind” (1904), deconstructs
... Show MorePlagiarism is becoming more of a problem in academics. It’s made worse by the ease with which a wide range of resources can be found on the internet, as well as the ease with which they can be copied and pasted. It is academic theft since the perpetrator has ”taken” and presented the work of others as his or her own. Manual detection of plagiarism by a human being is difficult, imprecise, and time-consuming because it is difficult for anyone to compare their work to current data. Plagiarism is a big problem in higher education, and it can happen on any topic. Plagiarism detection has been studied in many scientific articles, and methods for recognition have been created utilizing the Plagiarism analysis, Authorship identification, and
... Show MoreThe samples were collected monthly crustaceans Mjmafah foot of two stations in tributary Zab down and two others in the Tigris River for one year with effect from November 2001 until October 2002 recorded during the study period the current 41 units taxonomic and were higher density of Mjmafah foot Guy Tigris River before the mouth of the tributary
DBN Rashid, Rimak International Journal of Humanities and Social Sciences, 2020
The main aim of this research is to introduce financing cost optimization and different financing alternatives. There are many studies about financing cost optimization. All previous studies considering the cost of financing have many shortcomings, some considered only one source of financing as a credit line without taking into account different financing alternatives. Having only one funding alternative powers, restricts contractors and leads to a very specific financing model. Although it is beneficial for the contractor to use a long-term loan to minimize interest charges and prevent a substantial withdrawal from his credit line, none of the existing financial-based planning models have considered long-term loans in
... Show MoreCandida is the scientific name for yeast. It is a fungus that lives almost everywhere, including in human body. Usually, the immune system keeps yeast under control. If the individual is sick or taking antibiotics, it can multiply and cause an infection. Yeast infections affect different parts of the body in different ways including thrush is a yeast infection that causes white patches in oral cavity ,Candida esophagitis is thrush that spreads to esophagus, women can get vaginal yeast infections,(vaginitis) causing itchiness, pain and discharge, yeast infections of the skin cause itching and rashes ,yeast infections in bloodstream can be life-threatening . The current review article will concentrate on vaginal infection (vaginitis), project
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