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.
There are two ways that the contract might be formed with (contracting between persons who are attended and contracting between absence persons).the need for determining the precise moment of the contract , is so clear because there is a specify period separate between the declaration of acceptance and the knowledge with it .and it is clear from the four theories known for jurisprudence (theory of the declaration of the acceptance, theory of exporting the acceptance , theory of the arrival of the acceptance , theory of the knowledge with the acceptance ) . It is difficult to promote one theory on another one if we look at each one and the justification of its supporters and what the opponents of each theory expose. Legal background and diff
... Show MoreBackground: Friedreich ataxia (FRDA) is the most common form of inherited ataxia, comprising one-half of all hereditary ataxias with a carrier rate between 1 in 60 to 1 in 90 and with a disease prevalence of 1 per 29,000. It can occur in two forms the classic form or in association with a vitamin E dependent ataxia. The precise role of Vitamin E in the nervous system is unknown; An Oxidative attack is suspected to play a role in Ataxia with Vitamin E deficiency, as well as in Friedreich ataxia. Vitamin E is the major free-radical-trapping antioxidant.
Objective: Theobjectives of the study is to asses vitamin E level in patients with Friedreichs ataxia phenotype in Iraqi patients.
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Background: Measuring the concentration of hepatitis B surface antigen (HbsAg) in HBV patients can be determined with immunoassay techniques. This study aimed to measure the HbsAg titers in chronic HBV patients and to assess its correlation with patients' ages, gender, and with the levels of liver enzymes and total serum bilirubin. Materials and Method: Fifty-eight chronic hepatitis B infected patients were enrolled in this study. Age and gender of the patients were recorded. HbsAg concentration was tested with automated Immunoanalyzer. The patients were also tested for ALT, AST, ALP, and TSB by automated chemistry analyzer. Results: All the chronic HBV patients have positive HBsAg titers above the negative cutoff (0.05U/L) with mea
... Show MoreThe aim of this research is to show the level of banking leadership trends in the importance of organizational confidence and its reflection in the dimensions of the strategic position the research was applied in a bank (Al- Mansour Investment, Business Bay), and the Questionnaire Was adopted as a tool to collect data and information from the number of the sample (15) who are in allocation (Department Manager, Department Manager Department Manager, Division Officer, Unit Officer) and he used the statistical program (spss) to calculate (standard deviation, arithmetic mean, percentages, regression, analysis,F-test coefficient of determination R2, Coefficieent, square Kay and the research reached a number of conclusions, the mos
... Show MoreThe primary function of commercial banks is the process of converting liquid liabilities such as deposits to illiquid assets, (also known as a loan), liquid assets, (aka cash and cash equivalent) in a balanced manner between liquid and illiquid assets, that guaranteed the preservation of the rights of depositors and the bank and not by converting liquid liabilities into liquid assets in a very large percentage. This comes from its role as depository and intermediary institutions between supply and demand, therefore, we find that the high indicators of bank liquidity and solvency may reflect a misleading picture of the status of commercial banks, to some extent in terms of the strength of their balance sheets and
... Show MoreIntroduction: The use of screw-retained hybrid arch bars (HABs) is a relatively recent development in the treatment of mandibular fractures. The purpose of this study is to compare the clinical outcome between HAB and the conventional Erich arch bar (EAB) in the closed treatment of mandibular fractures. Materials and methods: This study included 18 patients who were treated for mandibular fractures with maxillomandibular fixation (MMF), patients were randomly assigned into a control group (n = 10) in which EAB was used and study group (n = 8) in which HAB was used. The outcome variables were time required for application and removal, gingival inflammation scores, postoperative complications, and incidence of wire-stick injury or gloves perf
... Show MorePrecious stones enjoyed a high level of goodwill among people in the ancient world as they were considered as important source of their jewels, an effective medicine to cure their diseases and spiritual healing that bring optimism and happiness by holding it especially to those who believe their effects on the Human.
Arab woman didn't abandon the interests of the neighbor civilizations as she coped with them and took what she desired of jewelry like pearls, sapphires and emerald. She used some of precious stones like antimony, magnet and bezoar in prescriptions for curing diseases and injuries. She also used turquoise, onyx and cat eye stone to prevent envy and Exorcism purposes as she thought that these stones could protect her from
Introduction: Rheumatoid arthritis (RA) is one of the most prevalent systemic inflammatory diseases worldwide. Cardiac complications present the most common mortality cause among RA patients. One of the most important comorbid conditions with RA is diabetic hyperglycemia mainly type 2 diabetes mellitus (T2DM). Aim of the study: The present study was conducted to assess prevalence of T2DM among patients diagnosed with RA from Iraq. Methodology: We included a randomly selected 100 rheumatoid arthritis. All included patients were subjected to anthropometric measurements, diabetic profile assessment and ESR, CRP and rheumatoid factor measurement. Results: Among the included RA patients, 28 patients were diagnosed with new-onset DM. Our
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