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 study the marketing costs in its various items, which are important costs as it specializes in tunnels on the marketing side through which the company's services are introduced to ensure that these services reach as many segments of society as possible, which serves the company's objectives and expand its business and increase its market share. As well as the definition of profitability and its relation to marketing costs in the portfolios of the national insurance company. The research hypothesis was formulated to study and analyze the relationship and impact between the marketing costs and profitability of the research sample company. The research sample was determined by the National General Insurance Comp
... Show MoreThe interaction in the city is reflected in the movement of people motivated by their activities and their economic and social goals, which include many variables subject to the planning process in the interpretation of this movement and the mapping of trends of transport intensity through the concept of transport function and its functional relationships with the uses of the earth in the sustainability and effectiveness of the movement of transport and Economic activity and population movement. Transport planners are concerned with the requirements of land use, which are linked to and included in the transport planning process as a factor for the future transport needs. There is a strong relationship between the transport system
... Show MoreErosion and deposition are natural phenomena in the river estuaries that could be presented as a dynamic process involving removing materials from one location and accumulating these materials at other locations. These two phenomena may cause changes in waterways and affect offshore structures. The Shatt Al-Arab River Estuary, Iraq was greatly affected by these two phenomena, and topography changes occurred. Velocity profiles and bed shear stress can be used as indicators to identify the erosion and deposition locations. Large-scale roughness elements proved to make beneficial changes in the hydraulic properties of open channels. They can create desirable effects to control erosion
In this research we prepared nanofibers by electrospinning
from poly (Vinyl Alcohol) / TiO2. The spectrum of the solution
(Emission) was studied at 772 nm. Several process parameter were
Investigated as concentration of PVA, the effect of distance from
nozzle tip to the grounded collector (gap distance), and final the
effect of high voltage. We find the optimum condition to prepare a
narrow nanofibers is at concentration of PVA 16gm, the fiber has
20nm diameter
The sciences related to the Book of God are many, and the benefits of every science in it are abundant, and among those sciences is the science of readings, which is for the sake of science and the most honorable, due to its strong attachment to the Book of God Almighty. From this care, and aims to show the attention of scholars to the science of readings in general and the scholars of the fifth century in particular, as the literature on it abounded until it became the principal for those who came after them.
The research consists of an introduction that includes the objectives of the research, the reasons for choosing it, previous studies, research questions, and research terms, then a preface dealing with the im
... Show MoreThe aim of the research was to know the effect of the inquiry wheel model on chemical enlightenment among second-grade middle school female students in government daytime middle and secondary schools. Umm AlQura Middle School was chosen by intentional selection to be its students as the research sample for the academic year (2024-2025). Two groups were chosen, one of which was the experimental group studying using the inquiry wheel model and the other the control group studying in the usual way. The equivalence of the two research groups was verified by a set of variables, which were (chronological age in months, previous information test, Raven's intelligence test, chemical enlightenment scale). As for the research tool, the researchers bu
... Show MoreThe study was conducted at the fields of the Dept. of Horticulture and Garden Engineering, College of the Agricultural Engineering Sciences, Jadriyah in the fall season of 2020-2021 aiming to culture the coral lettuce with green and red leaves under the hydroponics system using the modified nutrient solution film NFT and study the effect of aqueous extracts of alfalfa and berseem sprouted seeds on the quantitative and qualitative yield of the lettuce crop. The research was conducted as an experiment of split plots within the Randomized Complete Block Design (RCBD) of three replicates. The seedlings of the green coral lettuce, Locarno RZ, and red coral lettuce, Locarno RZ, symbolized by A and B respectively, were transferred to the c
... Show MoreThis research aims to identify the effective role of self-managed teams in the quality of service performance in the directorate of Ramadi municipality. The problematic nature of our research involves this main question of the effective role of self-managed teams in the Municipality of Ramadi in improving the services of performance quality to the beneficiaries from the Directorate service. The importance of this study lies in the role played by the work teams in the organizations that excel in their field, the attendant of the changes in the leadership, administrative roles of the institutions, and teams leaders, will be achieved by the self-managed teams in improving the quality of the service provided by the institution to whi
... Show MoreThrough the researchers' acquaintance with the previous studies, the problem was identified as that the preparation of training curricula in all its units must be based on accurate scientific foundations. Positively affect the type of attack and its implication in the presence of correlational relations, whether direct or indirect, i.e., precedence in training and in preparing units Therefore, the researcher decided to build a causal model to know the relationships to show the best model of the direct straight attack. The study aimed to build a causal model for the most important physical measurements and kinetic capabilities of the direct straight attack in the research sample. The two researchers used the descriptive approach in t
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