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 Growth Differentiation Factor -15 (GDF-15) is a member of the transforming growth factor β superfamily. İt represents an example of the stress response cytokines. It's mostly found in cardiac myocytes, adipocytes, macrophages, endothelial cells, and vascular endothelial cells, whether they're generated normally or not. GDF-15 levels have increased and are associated with cardiovascular risk. Aim of the study: To investigate the correlation between angiotensin-converting enzyme (ACE) inhibitors and angiotensin II receptor blockers (ARBs) with the level of plasma GDF-15 in a group of hypertensive patients. Materials and methods: A case-control study involved 90 individuals, 60 hypertensive patients (36 on ACE inhibitors and 24 on ARBs)
... Show MoreThis paper is an attempt to clarify the impact of Postcolonialism, one of the most
challenging fields of study that has emerged in recent years, on representations of women in
once-colonised countries and in Western locations. It discusses the influence of cultural
differences on the status and identity of a woman who experience ‗multiculturalism‘. The
study is an analytical reading of a contemporary novel written by the Iraqi writer Betool Al-
Kudairi. The emphasis lies on the clash between two different cultures and traditions
represented by the British mother and the Iraqi father and its effect on the life and identity of
the protagonist. The main focus is on idea of ‗hybrid identity‘ and the absence of th
This study applies a discourse analysis framework to explore the portrayal of women in Maysloon Hadi’s novel (The Black Eyes) (2011), using Critical Discourse Analysis (CDA) and Norman Fairclough’s tri-dimensional model (1989) as the analytical foundation. It investigates the roles and challenges women face in the novel. While there is growing interest in the portrayal of women in literature, Iraqi literature—especially from the perspective of Iraqi women writers remains underexplored. Hadi’s *The Black Eyes* provides a unique case to examine this intersection. Despite the novel’s rich narrative, which offers insight into Iraqi women’s lives, there is a lack of comprehensive CDA to understand how its language constructs
... Show MorePrograms directed to children through the media in general and in television in particular are among the main factors that help in forming the cultural and educational values of this important segment of society, and in light of this the study problem was identified in answering a major question: What are the cultural and educational values that Ajyal channel seeks Space planted in children through my program, Iftah Ya Simsim (in its new season) and Friends of Ajyal? , While the objectives of the study were evident in identifying the most prominent cultural and educational values that the Ajyal satellite channel worked to instill in children, and identifying the nature of the techniques used by Ajyal channel in providing the value conten
... Show MoreThe micronucleated erythrocytes in fish was used to detect water pollution by genotoxic agents. Fish belonging to different species were collected from three regions from Baghdad during three months (December/2000,January and February/2001 ).The micronucleated erythrocytes was observed in all the specimens. It was concluded that the genotoxic activity' in one region was less than in die other two regions.?
Statement of the Problem. The use of orthodontic fixed appliances may adversely affect oral health leading to demineralizing lesions and the development of gingival problems. Aims of the Study. The study aimed to coat orthodontic archwires with chlorhexidine hexametaphosphate nanoparticles (CHX-HMP NPs) and to evaluate the elusion of CHX from CHX-HMP NPs. Materials and Methods. A solution of CHX-HMP nanoparticles with an overall concentration of 5 mM for both CHX and HMP was prepared, characterized (using atomic force microscope and Fourier transformation infrared spectroscopy), and used to coat orthodontic stainless steel (SSW) and NiTi archwires (NiTiW). The coated segments were characterized (using scanning electron microscopy
... Show MoreBackground: Diabetic neuropathy can affect any peripheral nerve, including sensory neurons, motor neurons, and the autonomic nervous system. Therefore, diabetic neuropathy has the potential to affect essentially any organ and can affect parts of the nervous system like the optic nerve, spinal cord, and brain. In addition, chronic hyperglycemia affects Schwann cells, and more severe patterns of diabetic neuropathy in humans involve demyelization. Schwann cell destruction might cause a number of changes in the axon. study aims to evaluate serum myelin protein level as a predicting marker in the diagnosis of diabetic neuropathy and to prevent early neuropathy complications of type 2 diabetes.
Sub
... Show MoreThe current work aims to evaluate the association between genetic mutations in thymidylate synthetase (
ABSTRACT Background: Tuberculosis is a worldwide infectious disease in spite of advancement in health care system. Tuberculous lymphadenitis is the most prevalent form of extra pulmonary tuberculosis with predilection of cervical lymph nodes. Objectives: To evaluate the reliability of grey scale ultrasonography together with color Doppler in the diagnosis of cervical tuberculous lymph adenitis and evaluation of early therapeutic response. Subjects and methods:From July 2015 to May 2016 in Al-Karama teaching hospital /Kut city- Wasit-Iraq, 25 patients (14 males and 11 females) with ages range from (6-50) years. Ultrasonography examination was done for all patients and grey scale criteria (distribution, size, shape, echogenicity, echogenic hi
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