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.
New speaker identification test’s feature, extracted from the differentiated form of the wave file, is presented. Differentiation operation is performed by an operator similar to the Laplacian operator. From the differentiated record’s, two parametric measures have been extracted and used as identifiers for the speaker; i.e. mean-value and number of zero-crossing points.
Inflammation of the tonsils could be described as acute tonsillitis, mainly due to infection. Recurrent tonsillitis could be defined as 3-7 episodes during the first 3 years of age. Vitamin D, which is a neuro-hormone with pleiotropic biological activities may modulate the immune response by alleviation, and stimulation of Th1 and Th2 cell proliferation, respectively, that influence the stimulation, synthesis, and secretion of both pro and anti-inflammatory cytokines. In this study we aimed to shed light on the levels of vitamin D in children with different episodes of tonsillitis in association with levels of interleukins (TNFα, IL-2, IL-4, IL-10). Blood samples were collected from 48 participants in 3 groups: control, acute tonsilliti
... Show MoreThe current research aims to identify: 1. The level of mathematical construct among the Department of Mathematics students in the colleges of education and basic education. 2. The level of effective mathematical operations in both sides of the brain at the Department of Mathematics students in the colleges of education and basic education. 3. The strength and direction of the correlation between the mathematical construct and effective mathematical operations on both sides of the brain at the Department of Mathematics students in the colleges of Education and Basic Education. To investigate the research objectives, the researcher formulated zero-main hypothesis for each aim and from the same hypothesis, three sub-zero hypotheses are deri
... Show MoreThis study aimed at identifying the trend to applying the Joint Audit as an approach to improve the financial reports quality with all their characteristics (Relevance, Reliability, Comparability, Consistency), as well as enclose the difficulties that faced the auditors in the Gaza Strip in implementing the Joint Audit. In order to achieve the study aims, a measure was used to identify the trend to apply the Joint Audit and it was distributed to the study sample which is consisting of (119) individuals and retrieved thereof (99) valid for analysis, approximately (83.2%), (69) of them are Auditors, (30) financial managers and accountants. The researcher used the analytical descriptive method, and after analyzing the results, the s
... Show MoreSituational regret and its relation to the vitality of conscience among university students The research seeks to identify situational regret and its relation to the vitality of conscience among university students, identify the significant differences in regard with students’ gender, and identify if there is a correlation between situational regret and the vitality of conscience. To do this, two scales were adopted; one to measure situational regret consisted of (31) items, which was designed by (Al-badrani, 2006), besides, costa and macrys’ (1992) scale that translated in Arabic language by (Al-qaisy, 2013). It composed of (35) items. Total of (120) male and female students were collected from three-different colleges (science, art
... Show MoreThe research aimed to identifying :
- Egocentrism of the university students .
- Academic adaptation of the university student.
- Differences in Egocentrism according to the both variable ( Gender and Specialization ) of the university student.
- Differences in academic adaptation according to the both variable ( Gender and Specialization ) of the university student .
- The Contribution of academic adaptation to Egocentrism of the university student .
The sample of the research consisted of ( 400 ) students.
Tow instruments have been us
في البداية اود الاشارة الى ان فهم حقيقة الازمة هو ذو جانب فني يتعلق بالجينات الوراثية لنظام يملك في احيناته قدرة عالية على تفريخ المشتقات. هذا النظام الذي يزداد عقما وتدميرا يزداد قدرة على خلق النقود الائتمانية/المشتقات، وكلما اقتربنا اكثر من فهم هذا الجانب كلما اسقطت في ايدينا تلك التوصيفات الاكاديمية الجاهزة في نقص الرقابة والاشراف، تركيز المخاطر،....الخ التي تناولتها الكتابات الشائعة في معظم طروحات
... Show MoreThe management of wisdom is concerned with the level of expertise, methods of transmission, use and ability to problems and their impact on behavior and human behavior in order to improve it in the form of successful decisions. The importance of management of wisdom in making successful decisions that ensure the survival and development of society through the provision of leaders capable of planning, organization and decision-making to achieve the goals and objectives required in a complex and changing environment. Where the administration faces positions and problems that require operational decisions to organize the activities of the institution in line with the strategic decisions already taken under the proper strategic planning. The ex
... Show MoreBACKGROUND: Vascular tumors are a heterogeneous group of diseases with biological behavior ranging from a hamartomatous growth to frank malignant. The pathophysiology of lymphangioma, vascular malformation and hemangioma is interconnected, blood vessels known to be the site of origin of hamartomas, venous malformations and some neoplasms as benign, tumor-like growth of vessels (hemangiomas). Angiogenesis is the process of formation of new blood vessels from an existing structure.
Aims of study Assessment of angiogenic potential in benign vascular lesions (hemangioma, lymphangioma and lobular capillary hemangioma) of head and neck region.
Materials and Methods: Twenty-two formalin-fixed paraffin-embedd
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