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.
This article discusses the change of values in urban family, because of various communication media and modern technologies as one of the most important factors affecting the changing family values in urban areas, this means becoming part of urban life. And focuses on the family in urban areas, for the privacy of the social, economic, demographic and cultural help to this effect, and because cities are the most friction and interaction with modern technologies.
The charge density distributions of 10 B nucleus are calculated using the
harmonic oscillator wave functions. Elastic and inelastic electron scattering
longitudinal form factors have been calculated for the similar parity states of 10B
nucleus where a core of 4He is assumed and the remaining particles are
distributed over 3/ 2 1p and 1/ 2 1p orbits which form the model space.
Core-polarization effects are taken into account. Core-polarization effects are
calculated by using Tassie model and gives good agreement with the measured
data.
Obesity-related deaths continue to rise, and thus losing weight in overweight and obese patients is critical to prevent complications. Anredera cordifolia (Ten,) Steenis, species of succulent plant of the genus Basellaceae, is widely used in herbal medicine to decrease body weight. This study evaluated the potential benefits of Anredera cordifolia ethanol extract to reduce body weight in high-fat diet-induced obesity rat model. This was an experimental with post-test only control group design study involving 36 obese rats. They were divided into two groups: three control groups (K1, K2, K3) and three treatment groups (P1, P2, P3). All the groups were induced with high-fat diet, except K1 control group that received a standard di
... Show MoreThe research dealt with the effect of Kut Barrage on the geomorphological processes and the natural environment system in the course of the Tigris between the cities of Al-Ahrar and Kut in central Iraq. It was clear from the research the contribution of Kut Barrage in changing the surface runoff system between the front and back of the barrage, as well as changing the type of processes and the prevailing geomorphic forms, as the sedimentation activates the front of the barrage and erosion at its back, which affected the change in the morphology of the river, sediment retention at the front of the barrage, the burial of the bottom and reducing the validity of the stream. This also affects the efficiency of the barrage’s work and coastal er
... Show Moreيهدف البحث إلى التعرف على The research aims to identify the effect ofاثر التركيب العمري للسكان على الناتج المحلي الإجمالي في العراق وتحديد الفئات العمرية من أطفال ومنتجين أي من هم في سن العمل والمسنين لأهمية ذلك لإغراض التخطيط الاقتصادي.إنeffectofeee age structure of the population on GDP in Iraq and determine the age groups of children and any of the producers wham are of working age and the elderly of the importance for the purposes of economic planning. نسبة الفئة العمرية Proportion of the age group (00- -4 4سنوات اقتربت من
... Show MoreIn this research, the focus was placed on estimating the parameters of the Hypoexponential distribution function using the maximum likelihood method and genetic algorithm. More than one standard, including MSE, has been adopted for comparison by Using the simulation method
A discussion about the repercussions of the exchange rate on the behavior of stock markets became one of the basic principles of financial economics. The Istanbul Stock Exchange , considered one of the fastest financial markets growing in the region, driven by solid economic activity, for a diversified economy which classified as one of the the fastest growing economies in the world. However, the aforementioned market witnessed sharp fluctuations in the past few months, coinciding with the continuous fluctuations in the exchange rate of the Turkish lira, posing a serious challenge to the economic and investment environment in a c
... Show MoreThis research aims to identify the factors effecting the investigation of insurance fraud from the perspective of the National Insurance Company employees, by analyzing the study variables and make recommendations on how to enhance the company and employees performance, and to achieve the objectives of the study and test hypotheses a questionnaire was designed after referring to the international standards and the 1969 Iraqi punishment law, and it was answered by 20 employees that were approved for the purposes of this research and analysis.
The study found that lack of employee training was a strong factor, while the supervisory staff and operational procedures was a weak one.
G
... Show MoreThe existence of succession system has appeared in Arab Islamic state after the death of the prophet Mohammed (peace be upon God and peace), So there was caliphate, then the Umayyad dynasty in Syria , until 132 AH , the date o the emergence of the Abbasid state adopted a system ministry formally , hafs bin sulaiman ( Abu salamah Khallal ) was the first minister emerged on the political scene. He was killed at the time of the first Abbasid caliph , Abu Albbas , incest 132-136 who had put Khalid bin barmak as a minister instead of Hafs bin Sulaiman . During the reign of AL-Mansur 136-158 , there was an importance and a place for the ministry , despite of AL-Mansur strength personality that covered on his ministers personalities
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