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 amount of protein in the serum depends on the balance between the rate of its synthesis, and that of its catabolism or loss. Abnormal metabolism may result from nutritional deficiency, enzyme deficiency, abnormal secretion of hormones, or the actions of drugs and toxins. Renal cancer is the third most common malignancy of the genitourinary system, and accounts for 3% of adult malignancies globally. Total serum proteins were measured in malignant kidney tumor, benign kidney tumors, and non tumoral kidney diseases patient groups, as well as in healthy individuals. A significant decrease (p< 0.001) of total serum protein levels in patients with malignant kidney tumors when compared with those of benign tumors, non tumoral diseases, and hea
... Show Morethis worl was carried oit on 50 woman they were attended to the gynecological out patinetand non albicans vared among age group
KE Sharquie, GA Ibrahim, AA Noaimi, HK Hamudy, Journal of the Saudi Society of Dermatology & Dermatologic Surgery, 2011 - Cited by 16
Background: Thalassemia is characterized by the decrease or absence of the synthesis of one or more globin chains of hemoglobin. Thalassemia is distributed worldwide and is characterized by; regular blood transfusion which is creating alloimmunization to erythrocyte antigens is one of the major complications of regular blood transfusions in thalassemia, particularly in patients who are chronically transfused.Objectives: The aims of this study are to understand the immune system profile as the triggering factor for thalassemia.Methods: Thirty patients aging between one year and four months and twenty two years, twenty two of them were boys and eight were girls. Twenty nine patients, their parents are relative except one and studied in the
... Show MoreThe semiotic trend of recent monetary trends task that took a wide range of attention of critics and readers alike, especially after the deployment, which accompanied him after widespread acts critic Grimas and powers applicable to the literary texts and is thus expanded its care circle, hence the choice of the novel (absent) woman Iraqi novelist (Mahdi ‘Issa falcon) model to be applied to the study chose to be a semiotic approach through the use of procedural mechanisms for its critical tool (Paris School of semiotics), cash and views of its founder critic Grimas.The research in the introduction and pave came we made it a vision for literary semiotic and its impact trend in cash and cash is and what it desire to clarify some poked suc
... Show MoreThe subject of the act and its transformations in the presentation is of great importance at the level of study, analysis and interpretation, and through that the researcher adopted the following title (The Dramatic Act and Its Transformations in the Iraqi Theatrical Show). The play of Black Astronomy was chosen as a sample for analysis, and the aim of the research came in order to achieve a special knowledge of the extent of the transformation that occurred between the dramatic structure of the act and theatrical embodiment and its multiple elements of operation in the Iraqi theatrical shows. It was limited to the show of the Iraqi theater in the year (2020) and included the theoretical framework that accommodated three sections. As for
... Show MoreThe study aims to identify the degree of appreciation for the level of digital citizenship of a sample of Palestinian university students in the governorates of Gaza, and its relationship to the level of health awareness about the emerging coronavirus (covid-19). To achieve the objectives of the study, the researcher followed a descriptive approach by applying two questionnaires; the first, which consists of 30 items, was used to measure the level of digital citizenship. The second, which consists of 19 items, was used to measure the level of health awareness. Both questionnaires were applied on a sample of 367 students who were electronically selected using the manner simple randomness. Results have shown that the degr
... Show MoreBackground: In human life, malnutrition may adversely affect various aspects of growth at different stages of life. Teeth are particularly sensitive to malnutrition. Malnutrition may affect odontometeric measurement involving arch width and length of primary dentition. The aim of this study is to estimate the effect of nutrition on arch width and length dimension measurements among children aged 5 years old. Material and methods: This study was conducted among malnourished group in comparison to well-nourished group matching with age and gender. The present study included 158 children aged 5 years (78 malnourished and 80 well-nourished). The assessment of nutritional status was done by using three nutritional indicators, namely Height-for-a
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