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 research aims to identify Determination talent management dimensions of (attracting talent, developing talent, directing talent, performance management talent, retain talent) in the entrepreneurial performance of the organization dimensions of (advance planning, efficiency, effectiveness), so search occupies the extreme importance of being treated important and recent issue of the performance Entrepreneuria, management talent, aware of the importance of the subject and expected results of the company surveyed, was an analysis of data obtained through field visits in addition to the questionnaire and interviews, highlights were the results that have been reached to take the sample into account all the management requirements knack of att
... Show MoreThe infrastructure is one of the basic components of the tourism industry in Iraq in general and in Najaf in particular, in spite of there are obstacles and problems that which are hindered the development of tourism in Iraq, some of them are related to the tourism industry itself, some are related to the security and political situation, and some are related to poor management of tourism. However, the infrastructure is considered the cornerstone of the success of the tourism industry in Iraq and other countries, if it is available, it can be a potential indicator of success, and on the contrary, it is a hindrance to go forward. The aim of this research is to shed light on the availability of requirements for the s
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The space occupied by the dialogic imperative in the language is a very wide range, as it is present in most of the speeches received by the recipient, and this is not limited to dialogues. That the literary discourse is a dialogical and fulfillment imperative, as the implication is related to the implicit connotations, as if the implication covers the indirect actions of the speech act theory.
The Diyala River is considered the third most important river in Iraq. However, in the recent period, Diyala Governorate has been subject to several floods. This study aims to simulate an efficient labyrinth weir at the flood escape entrance branching from the Diyala River to reach the best entrance through which the flood waves can pass safely. The discharge coefficient was calculated laboratory for five types of trapezoidal side labyrinth weirs with different sidewall angles. Results showed that the coefficient discharge for the trapezoidal labyrinth side weir with an angle of the sidewall is 75ᵒ and has a discharge coefficient greater than the rest of the labyrinth side weirs. The second part of this study is valida
... Show MoreIsobaric Vapor-Liquid-Liquid equilibrium data for the binary systems ethyl acetate + water, toluene + water and the ternary system toluene + ethyl acetate + water were determined by a modified equilibrium still, the still consisted of a boiling and a condensation sections supplied with mixers that helped to correct the composition of the recycled condensed liquid and the boiling temperature readings in the condensation and boiling sections respectively. The VLLE data where predicted and correlated using the Peng-Robinson Equation of State in the vapor phase and one of the activity coefficient models Wilson, NRTL, UNIQUAC and the UNIFAC in the liquid phase and also were correlated using the Peng-Robinson Equation of State in both the vapo
... Show MoreThe letters are exposed in some texts of the classical Arabic language (poetry or prose), or in some of the Qur’anic texts, which are the main sources that were adopted on the day when provisions, rules and linguistic controls were established. I say that some of these letters are exposed in some contexts to deletion, mention, or change in the structure and shape of the letter. As for the omission, it is one of the aspects that distinguished Arabic, as well as other languages, for many purposes that differ among their user.
Is the efficiency of physical and your endurance is of great importance for some activities and field, as it whenever the situation has improved student career was able to perform physical exertion more with energy saving efforts, so the identification of physical aptitude and endurance private students, was based on that there are positively correlated the carrying of training and pregnancy fact on the shoulders of the student. In other words, physical aptitude and endurance in your control level that can be shown by the student during the performance of training and competitions. Therefore, lies the importance of research to test physical aptitude and endurance your help to reveal the career of the body in the light of their relationship
... Show MoreBackground: Postoperative morbidity after extraction of the impacted mandibular third molar (IMTM) is inevitable. One of the most common postoperative complication is alveolar osteitis (AO) which is a painful non healed socket. Many researches were attempted to prevent the occurrence of AO by introducing and applying a new materials inside the extraction socket. Platelet rich fibrin (PRF) is a biological complex fibrin matrix where autologous platelets and leucocytes are present, used to enhance tissue healing process and reduce the early adverse effects of the inflammation. Aims: To evaluate the effect of PRF on the incidence of AO. Also to assess PRF effect on pain, swelling, and trismus following the surgical removal of IMTM and compa
... Show MoreThis study aims at identifying the notion of Post-Occupancy Evaluation (POE) pertinent to the performance of three general hospitals constructed inside the Sulaimani City, tracing the relationship between the quality of the indoor environments and medical staff (doctors and nurses) satisfaction level. Using some indoor environment elements in the right way will positively influence the mood, stress level of the medical staff, and patient recovery as a result. The POE toolkits (AEDET and ASPECT) have been implemented on targeted wards at the selected hospitals. AEDET and ASPECT questionnaires were distributed among 152 medical staff to obtain their perspectives. In total, 112 valid questionnaires were received. The medica
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