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.
Three-dimensional (3D) reconstruction from images is a most beneficial method of object regeneration by using a photo-realistic way that can be used in many fields. For industrial fields, it can be used to visualize the cracks within alloys or walls. In medical fields, it has been used as 3D scanner to reconstruct some human organs such as internal nose for plastic surgery or to reconstruct ear canal for fabricating a hearing aid device, and others. These applications need high accuracy details and measurement that represent the main issue which should be taken in consideration, also the other issues are cost, movability, and ease of use which should be taken into consideration. This work has presented an approach for design and construc
... Show MoreA new class of higher derivatives for harmonic univalent functions defined by a generalized fractional integral operator inside an open unit disk E is the aim of this paper.
The key objective of the study is to understand the best processes that are currently used in managing talent in Australian higher education (AHE) and design a quantitative measurement of talent management processes (TMPs) for the higher education (HE) sector.
The three qualitative multi-method studies that are commonly used in empirical studies, namely, brainstorming, focus group discussions and semi-structured individual interviews were considered. Twenty
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... Show MoreThe degree of the woman’s satisfaction on clothing depends, to a large extent, on the body measurements. If clothing is very wide, it shows her enormous and if it is too tight it may draw attention to the defects of the body. It may also lead to the compatibility or incompatibility of clothing with fashion. Whatever the quality of the garment in terms of sewing and design, the costume which is not suitable for body size may affect the physical style negatively and may give the wearer an improper look. Clothing was carried out without measurements and did not use models (templates). The method of preparation affected the overall appearance because it often did not fit the shape of the body completely. Therefore, people thought in many w
... Show MoreThe study aims to identify the educational research obstacles as perceived by the faculty members at the universities of south in the west bank. As for study population, it included all (60) faculty-member in the colleges of education (bait lahem, alahliyah, al-khalil, and al-Quds almaftoha). To collect study data, the researcher used a questionnaire that consisted of (43) item; it has categorized into seven-domains: academic working conditions, academic management, resources and information, faculty members, publication, planning, and funding educational research. The findings revealed that Educational research obstacles were high with an average of (4, 39), no significant differences among sample averages and stander deviations on the
... Show MoreBackground: Determination of sex from an unknown human bone is an important role in forensic and anthropology field. The mandible is the largest and hardest facial bone, that commonly resist postmortem damage and forms an important source of information about sexual dimorphism. Mandibular ramus can be used to differentiate between sexes and it also expresses strong univariate sexual dimorphism. This study was undertaken to assess the usefulness of mandibular ramus as an aid in sex differentiation using CT scanning among Iraqi population. Materials and methods: 3D reconstructed computed tomography scanning of 140 Iraqi Arab subjects, (7 0 males and 70 females) were analyzed with their age range from 20-60 years old. The linear measurements w
... Show MoreIn this research, the possibility of using waste wooden materials (reed and sawdust) was studied to produce sustainable and thermal insulation lightweight building units , which has economic and environmental advantages. This study is intended to produce light weight building units with low thermal conductivity, so it can be used as partitions to improve the thermal insulation in buildings. Waste wooden materials were used as a partial replacement of natural sand, in different percentages (10, 20, 30, and 40) % . The mix proportions were (1:2.5) (cement: fine aggregate) with w/c of 0.4. The values of 28 days oven dry density ranged between (2060-1693) kg/m3.The thermal conductivity decreased from (0.745 to 0.2
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