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 study aims to explore the relationship between the degree of application of digital leadership and the development of administrative work at the University of Tabuk. It further aims to examine the presence of statistically significant differences between the average responses of faculty members and employees at the University of Tabuk regarding the study axes that are attributed to the following variables: (scientific rank, gender, and job), the study used the descriptive approach in its correlative style, and the questionnaire was used as a tool for data collection, as it was applied to a simple random of (310) members of the faculty and staff. University of Tabuk. The results showed that the degree of digital leadership applicatio
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important classifications for each indicator that has affected on the teaching process. &nb
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... Show MoreTraction force and power requirement when performing primary tillage occupy the minds of almost farmers, this field research had aim to determine and calculate the pulling force of the most commonly used moldboard and chisel plows, the research conducted in silt clay loam for chisel and moldboard plows as the main factor, two depths of tillage 18 and 25 cm as a second factor and three speeds of tractor 2.55, 4.30 and 6.15 km.h-1 as a third factor. Moldboard plow recorded least traction force 7.550 kN, drawbar power 11.583 hp, power losses due to slippage 1.088 hp, power on the rear axle of the tractor 15.770 hp and brake horse power 17.495 hp. Chisel plow recorded best traction efficiency 76.217 % and total traction efficiency 68.659 %. Dep
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This study investigates the application of hydraulic acid fracturing to enhance oil production in the Mishrif Formation of the Al-Fakkah oilfield due to declining flow rates and wellhead pressures resulting from asphaltene deposition and inadequate permeability. Implementing acid fracturing, an established technique for low-permeability carbonate reserves, was essential due to the inadequacy of prior solvent cleaning and acidizing efforts. The document outlines the protocols established prior to and following the treatment, emphasizing the importance of careful oversight to guarantee safety and efficacy. In the MiniFrac treatment, 150 barrels of #30 cross-linked gel were injected at 25 barrels per minute, followed by an overflush wi
... Show MoreCalculating the Inverse Kinematic (IK) equations is a complex problem due to the nonlinearity of these equations. Choosing the end effector orientation affects the reach of the target location. The Forward Kinematics (FK) of Humanoid Robotic Legs (HRL) is determined by using DenavitHartenberg (DH) method. The HRL has two legs with five Degrees of Freedom (DoF) each. The paper proposes using a Particle Swarm Optimization (PSO) algorithm to optimize the best orientation angle of the end effector of HRL. The selected orientation angle is used to solve the IK equations to reach the target location with minimum error. The performance of the proposed method is measured by six scenarios with different simulated positions of the legs. The proposed
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