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 effect of molecules intersystem crossing (Kisc) on characteristics
(energy and duration) of a Passive Q- switched Laser Pulse has been
studied by mathematical description (rate equations model) for
temporal performance of which was used as a saturable absorber
material (passive switch) with laser. The study shows that the energy
and duration pulse are decreasing while the molecules intersystem
crossing into saturable absorber energy levels is increasing.
The research aims at the scholars’attention to the importance and role of Arab Muslim women through books and historical studies that historians and scholars have taken up like Ibn Al-Jawzi (597 AH) and his book Safwat Al-Safwa, where he presented the conduct of worship and their words and deeds, and explained to women worshipers other aspects of their lives, such as the scientific aspect Crafts and works as well as their prominent role in preaching and religious guidance, and the impact of this on their morals and qualities. This study showed the strength of the personality of women and their high interest in worship. The importance of the study lies in knowledge.The research followed the role of Muslim women to carry t
... Show MoreDeep learning has recently received a lot of attention as a feasible solution to a variety of artificial intelligence difficulties. Convolutional neural networks (CNNs) outperform other deep learning architectures in the application of object identification and recognition when compared to other machine learning methods. Speech recognition, pattern analysis, and image identification, all benefit from deep neural networks. When performing image operations on noisy images, such as fog removal or low light enhancement, image processing methods such as filtering or image enhancement are required. The study shows the effect of using Multi-scale deep learning Context Aggregation Network CAN on Bilateral Filtering Approximation (BFA) for d
... Show MoreThis paper is concerned with the blow-up solutions of a system of two reaction-diffusion equations coupled in both equations and boundary conditions. In order to understand how the reaction terms and the boundary terms affect the blow-up properties, the lower and upper blow-up rate estimates are derived. Moreover, the blow-up set under some restricted assumptions is studied.
The project has been described the design and construction of a reliable optical testing platform used for evaluate the reflectivity of metal surfaces treated with special paintings required for laser beam attenuation. The platform comprises an Nd-YAG laser system which has been designed and fabricated with specifications to be compatible with their corresponding in laser range finder transmitters used for various applications. The reflectivity of various attenuating paintings, at different detection angles, has been observed. Moreover, the variation of the reflected energy with painting type and metal type to be painted has been studied experimentally. Results illustrated the existence of a definite angle, at which the reflectivity was max
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... Show MoreMechanical degradation hampers the practical usage of polymers for turbulent drag reduction
application. Mechanical degradation refers to the chemical process in which the activation energy of
polymer chain scission is exceeded by mechanical action on the polymer chain, and bond rupture
occurs. When a water-soluble polymer and surfactant are mixed in water solution, the specific structures
(aggregates) are formed, in which polymer film is formed around micelle. In this work, Xanthan gum (XG) –
Sodium lauryl ether sulfate (SELS) complex formation and its effect on percentage viscosity reduction
(%VR) was studied. It was found that SELS surfactant reduced the mechanical degradation of XG much
more efficiently than th
This article introduces a numerical study on heat exchange and corrosion coefficients of Zinc–water nanofluid stream in a circular tube fitted with swirl generator utilizing CFD emulation. Different forms of swirl generator which have the following properties of plain twisted tape (PTT) and baffle wings twisted tape (BTT) embeds with various ratio of twisting (y = 2.93, 3.91 and 4.89), baffle inclination angles (β = 0°, - 30° and 30) joined with 1%, 1.5% and 2% volume fraction of ZnO nanofluid were utilized for simulation. The results demonstrated that the heat and friction coefficients conducted by these two forms of vortex generator raised with Reynolds number, twist ratio and baffle inclination angles decreases. Likewise, t
... Show MoreImproving" Jackknife Instrumental Variable Estimation method" using A class of immun algorithm with practical application