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.
Medulloblastomas and ependymomas are the most common malignant brain tumors in children. However genetic abnormalities associated with their development and prognosis remain unclear. Recently two gene fusions, KIAA1549–BRAF and SRGAP3–RAF1 have been detected in a number of brain tumours. We report here our development and validation of RT-RQPCR assays to detect various isoforms of these two fusion genes in formalin fixed paraffin embedded (FFPE) tissues of medulloblastoma and ependymoma. We examined these fusion genes in 44 paediatric brain tumours, 33 medulloblastomas and 11 ependymomas. We detected both fusion transcripts in 8/33, 5/33 SRGAP3 ex10/RAF1 ex10, and 3/33 KIAA1549 ex16/BRAF ex9, meduloblastomas but none in the 11 ep
... Show MoreSevere periodontitis is ranked as the sixth most prevalent disease affecting humankind, with an estimated 740 million people affected worldwide. The diagnosis of periodontal diseases mainly relies upon assessment of conventional clinical parameters. However, these parameters reflect past, rather than current, clinical status or future disease progression and, likely, outcome of periodontal treatment. Specific and sensitive biomarkers for periodontal diseases have been examined widely to address these issues and some biomarkers have been translated as point-of-care (PoC) tests. The aim of this review was to provide an update on PoC tests for use in the diagnosis and management of periodontal diseases. Among the PoC tests developed so
... Show MoreThe Local and Global Corporations are suffering of managerial and financial corruption phenomena, which leads them to loss and bankruptcy. So, it is necessary to search for tools which help prevent phenomena like this, and one of these tools is (corporate governance) which represent controlling tool that contribute in reducing corruption. this study aims at modifying (corporate governance system)in order to make it suitable with Iraqi government Corporations. the study depend upon main hypothesis which is (the performance level of the strategic perspective of governance system is depending upon work according to the perspective dimensions itself. From the main conclusions:-It is possible to building a strategic perspective
... Show MoreThis work presents a simple method for determination of the neutron reflection coefficient (n) as a function of different neutron reflector materials.A laboratory neutron source (Am-Be) with activity of 16 ci is employed with a (BF3) neutron detector. Am-BeThree types of reflector materials are used as samples, the thickness of each sample is (5cm).It is found that( ?7) is: -For polyethlyene = 0.818
Systemic lupus Erythematosus is an autoimmune disease of unknown aetiology affecting multiple organ system. Reactive nitrogen and oxygen species are claimed to play a role in this disease. However, the potential of Nitrosative/Oxidative Stress to elicit an autoimmune, response remain till now largely unexplored in humans. This study was done to investigate the status and contribution of nitrosative/oxidative stress in Iraqi patients for systemic lupus erythematosus. Blood samples from 19 patients with systemic lupus erythematosus and 19 age-and sex- matched apparently healthy controls were evaluated for serum levels of nitrosative/oxidative stress markers including nitric oxide, peroxynitrite and malondialdehyde. Nitric oxide levels were
... Show MoreLying is considered a dangerous tendency among children if it has become a habit. It results in many social problems, such as child’s loss of confidence, lack of others’ respect to him, and his lack of respect to the desired values of the society, such as honesty and trust. Consequently, he will be led to a deviation when he becomes old; especially if the child’s socially unaccepted behavior has not been directed. The research, thus, aims to examine the causes of lying in the most important stage of children’s life; that is, between (4-6) years. Such an aim helps to know about the individual reasons of lying among males and females from teachers’ perspectives. To meet the objective of the study, a number of (128) children
... Show MoreCiprofloxacin is widely used in treating adults infected with Gram-negative bacteria. It is contraindicated in children, growing adolescents and during pregnancy due to joint toxicity. Its toxicity concerning other organs needs to be clarified. Thus, this study was designed to study the possible cardiac damage induced by two selected doses of ciprofloxacin in juvenile rats.Eighteenth healthy juvenile rats (4 weeks old and their weight 30 ± 2 gm) were utilized in this study and divided into three groups. Group-I control; group II and group III, respectively injected IP with 25 mg/kg and 50 mg/kg ciprofloxacin every 12 hours for one week. Serum enzymes activities alanine aminotransferase (ALT), aspartate aminotransferase (AST), cr
... Show MoreThere is substantial data supporting the importance of both endogenous and exogenous estrogen in maintaining reproductive health and preventing chronic disease, androgens in women's health are rarely discussed. This is one of the first researches to investigate correlates of blood testosterone concentrations in women with osteopenia, in anticipation of the growing interest in the role of androgens in women's health. A 65 volunteer women were enrolled in the current study, they were divided into two groups, 35 postmenopausal women with osteopenia were in the first group, and the second group contained 30 postmenopausal women without osteopenia as a control. Blood samples were collected from all participants and analyzed for testosterone l
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