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.
Background: Although expression of the HER-
2/neuoncogene may be of some prognostic importance
in advanced ovarian cancer, its role in early-stage
disease has not been established. The current study
examined the prevalence and significance of HER-
2/neu expression in different grades of different types
of surface epithelial ovarian carcinoma.
Methods: Thirty eight female patients with surface
epithelial ovarian cancer were included in this study.
The blocks of corresponding formalin fixed, paraffinembedded
ovarian biopsies were retrieved from the
archives and hematoxylin-eosin slides of each ovarian
biopsy were reviewed and marked their grades of
differentiation , then a new sections from each sampl
Exogenous levothyroxine dose modulation and euthyroidism achievement is a persistent challenge in clinical settings. This study strives to assess the adequacy of treatment and identify the patients’ factors that can be used to estimate the euthyroid levothyroxine dose. A secondary objective was to assess vitamin D supplementation impact on thyroid status.
A review of a prospectively collected information from 142 female patients from Baghdad Center of Nuclear Medicine from June 2019 until March 2020 who were receiving levothyroxine for different causes was done. After a follow-up period, the patients’ thyroid tests were assessed and the euthyroid doses for each cause category were statistically analyzed. Thyroid function was
... Show MoreThe current research aimed to study the effect of an exercise program on physical-kinetic intelligence and the skills of dribbling and shooting in basketball among female students. The research community was composed of 102 female students in the second stage of the Physical Education and Sports Sciences College for Girls of Baghdad University, in the academic year 2021-2022. A total of 40 female students were the sample of the study: 20 female students in the control group and 20 female students in the experimental group. After the implementation of the exercise program, there were significant improvements from pre-tests to post tests in the two groups (control and experimental groups), in physical-kinetic intelligenc
... Show MoreBackground: Malnutrition during human growth affects the size of the tissues at different stages of life, body proportions, body chemistry, as well as quality and texture of tissues. Teeth are particularly sensitive to malnutrition. Malnutrition may affect odontometric measurement involving tooth size dimensions. The aim of this study was to estimate the effect of nutrition on teeth size dimension measurements among students aged 15 years old. Materials and methods: This study was conducted among malnourished group in comparison to well-nourished group matching with age and gender. The present study included 167 students aged 15 years (83 malnourished and 84 well-nourished). The assessment of nutritional status was done by using body mass
... Show MoreA total of 28 birds were examined to investigate about the distribution of the nematode Hadjelia truncata among some members of the avian family Columbidae in Al-Diwaniya Province, Central Iraq. The percentages of the infection rate with this nematode were 27.27, 37.5, 14.28 and 0 in Columba livia, C. palumbis, Streptopelia decaocto, and S. turtur respectively. Reporting Hadjelia truncata from Streptopelia decaocto constitutes a new host record.
The closeness of residential neighborhoods to oil refineries and petrochemical plants in these areas has heightened the community’s exposure to dangerous air pollutants. This study aimed to investigate the impact of health literacy upon lung cancer screening beliefs among residents of neighborhood adjacent to a refinery oil.
A cross-sectional study design using nonprobability convenience sampling was applied, employin
In this search, a new pyrophosphate technique was proved. The technique was employed to single- nucleotide polymorphisms (SNPs), which diagnosis using a one-base extension reaction. Three Mycobacterium tuberculosis genes were chosen (Rpob, InhA, KatG) genes. Fifty-four specimens were used in this study fifty-three proved as drug-resistant specimens by The Iraqi Institute of Chest and Respiratory Diseases in Baghdad.; also one specimen was used as a negative control. The steps of this technique were by used a specific primer within each aliquot that has a short 3-OH end of the base of the target gene that was hybridized to the single-stranded DNA template. Then, the Taq polymerase enzyme and one of either α-thio-dATP, dTTP, dGTP, or dCTP
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Analyzing the size of the interrelationships between the main economic sectors in the Iraqi economy is an important necessity to know the impact of each sector on other economic sectors on the basis of the interrelationships and reciprocity between them, and what these relationships have achieved in terms of enhancing development and increasing the gross domestic product. To achieve the objectives of the study, we relied on mathematical (quantitative) analysis using user-product tables. Issued by the Ministry of Planning / Central Bureau of Statistics and Research (Directorate of National Accounts) for the economic sectors that make up the Iraqi economy. The study conc
... Show MoreWe propose a novel strategy to optimize the test suite required for testing both hardware and software in a production line. Here, the strategy is based on two processes: Quality Signing Process and Quality Verification Process, respectively. Unlike earlier work, the proposed strategy is based on integration of black box and white box techniques in order to derive an optimum test suite during the Quality Signing Process. In this case, the generated optimal test suite significantly improves the Quality Verification Process. Considering both processes, the novelty of the proposed strategy is the fact that the optimization and reduction of test suite is performed by selecting only mutant killing test cases from cumulating t-way test ca
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