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.
Besides the role of state institutions that come in the forefront of their priorities and obligations to provide security and development of the economy and reduce the unemployment rate and the reduction of inflation and improving education, health and others, the Community Partnership At frames what has become known as the institutions of society civil-with the state does not eliminate the role, but rather complements its role ; it is the role of civil society partner and an extension of the role of the state in the face of challenges and crises, but it may be sometimes a race role in addressing social, political and economic issues of the role played by the state, not complementary.
The highlighting the specificity of the relationsh
The relationship between pollution levels in river sediment and fluctuating asymmetry of resident silurid fish species,
Assessing performance efficiency is critical to the management need for oversight, planning, and continuous periodic evaluation of the multiple activities of Northern Cement State Company in order to determine the level of achievement of the objectives set, and to correct the deviations and delays that the evaluation shows and limitation of liability. What cannot be measured cannot be managed. The aim of this research is to highlight the impact of using BSC, financial and non-financial, to give comprehensive and clear picture of the company's performance and to measure the quality of its performance by using six-sigma and the level of deviations in achieving the planned goals. Therefore, four-key hypotheses were formulated for th
... Show MoreAbstract in English The aim of this study is to identify the effectiveness of rehabilitation exercises in conjunction with aquatic therapy for those suffering from sacroiliitis in football players. The researcher used the experimental approach, using the experimental design (pre-measurement, post-measurement). Similar to the objectives and procedures of the research, the researcher assumed the following: the existence of significant differences. Statistics between pre- and post-measurements in variables in favor of post-measurement for the following variables (degree of pain and level of balance). The experimental approach was used with a pre- and post-measurement design on one group of football players with sacroiliitis, nu
... Show MoreThis research aims at the possibility of rationalizing business organizations according to the strategic planning directions which have been developed to deal with many problems faced by business organizations, including the General Company for Automobile and Machinery Trade which was chosen as a research society, and several research problems were diagnosed, including an increase in the numbers of employees who constitute hidden unemployment, lack of work in the system of job specialization, and the organizational structure which is the non-application of the company to a modern administrative model. The importance of the research is that the company being investigated is a pioneer in its field of work and seeks to achieve custo
... Show MoreThe topic of strategic intelligence is considered as important topics that acquires the attention of organizations, Because of its role in supplying the decision-making centers by strategic ideas according to the opportunities and threats facing the organization, in an effort to improve the performance of their organizations to reach the high performance organization.
A lot of organizations lack to strategy guides the strategic intelligence towards achieving high performance organization.
This research aims to determine the level of strategic intelligence that characterized the leaders of diseases and kidney transplant center in Medicine city. What is the application level of the
... Show MoreBackground. The motor response is a fundamental ability that is evident during any physical or motor activity. However, the need for this ability varies from one sport to another and depends on the specific skills required in each sport. Objectives. This study aims to compare the average motor reaction times of the arm and leg among handball, basketball, and volleyball players aged 14 to 16 years. Methods. The sample included 30 players aged 14-16 years from the sports talent care center, evenly distributed on handball, basketball, and volleyball. Standardized tests were used to measure the speed of motor response, including the Batak Micro test for hands, which records the number of responses to light stimuli in 30 seconds, and the Saqer t
... Show More
Background: Osteoporosis is a systemic skeletal disorder that has an impact on general health, dental health and salivary composition. The mineralization of teeth happens simultaneously with that of the skeleton, but if mineral metabolism is disrupted, tooth failures will resemble those that affect bone tissue. Vitamin D plays a key role in bone and tooth mineralization.
Objective: to evaluate the impact of osteoporosis on teeth decay in relation to salivary vitamin D among menopause in Baghdad city.
Subjects and Methods: This study was cross sectional study. The study group consists of
... Show MoreMultiple sclerosis (MS) is a chronic, inflammatory, immune mediated disease of the central nervous system, mostly affecting young adults with mean age of 30 years, twice as high in women compared to men. The etiology of MS is not fully elucidated. MS symptoms are directly related to demyelination and axonal loss, along with other psychological symptoms, can result in functional limitations, disability and reduced quality of life (QoL). The QoL assessments in patients with a chronic disease may contribute to improving treatment and could even be of prognostic value. The goals of this study were to compare the QoL of Iraqi patients with relapsing remitting multiple sclerosis (RRMS),using three different diseas
... Show MoreFootball tennis is a team game derived from the integration of football skills, tennis and some of the laws of volleyball. This game originated in 1920, but it was officially approved in 2010 and an international federation was formed for it. Football tennis, like other sports, has its own basic laws and rules, but it is characterized by physical requirements, the way of playing and how to perform skills. Determining these abilities and working to improve and develop them is important and a scientific step to reach the best results, as the special abilities of the game contribute to mastering technical performance of skills and play without errors and thus competition in an ideal technical and legal situation. The research aims to:
... Show More