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.
Cutaneous leishmaniasis (CL) is one of the most prevalent cutaneous parasitic protozoan infections in Iraq; characterized by a chronic infection and granulomatous disease that invades the skin. Type 1 immune was predominates in CL patients with exacerbated production of pro-inflammatory cytokine, therefore this study aimed to evaluate serum level of interferon gamma (IFN-γ) and monokine induce by interferon gamma (MIG/CXCl9) as a useful markers of disease development in patients during different stage of infection (<1 month .. early , 1-6 month.. chronic and >6 months.. late). The result showed that there was an early effort to eliminate the parasite proliferation which illustrated by a high significant increase of both IFN-γ
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... Show MoreExposure to lead results in significant accumulation in most of vital organs, and free radical damage has been proposed as a cause of lead-induced tissue damage, where oxidative stress is a likely molecular mechanism. This study was designed to evaluate therapeutic effects of melatonin in lead-induced organ toxicity in rats. The therapeutic effects of melatonin on lead induced toxicity in rats were evaluated using 36 rats, which were allocated into 3 groups and treated as follows: Group I, includes 12 rats injected subcutaneously with 0.2 ml physiological saline for 30 days, followed by treatment with a daily dose of 20mg/kg melatonin, administrated I.P for the successive 30 da
... Show MoreMany waste materials can be repurposed effectively within asphalt concrete to enhance the performance and sustainability of pavement. One of these waste materials is sawdust ash (SDA). This study explores the beneficial use of SDA as a substitute for limestone dust (LD) mineral filler in asphalt concrete. The replacement rate was 0%, 15%, 30%, 45%, and 60% by weight of total mineral filler. Scanning electron microscopy (SEM) was employed to assess the surface morphology of Sawdust (SD), SDA, and LD. In addition, a series of tests, including Marshall stability and flow, indirect tensile strength,moisture susceptibility, and repeated uniaxial loading tests, were conducted to examine the performance characteristics of asphalt mixtures of diffe
... Show MoreRenal function tests are commonly used in clinical practice to look for renal disease, the most common includes the serum urea, uric acid and creatinine. Heart failure patients have a higher incidence of renal function test abnormalities than individuals who do not have heart failure disease. Fifty subjects of adults (male) were divided in to two groups, 25 subjects (healthy) as control (group1) and 25 subjects with heart failure (group 2). Our results indicate that serum uric acid, urea, and creatinine values were significantly elevated (P≤0.05) in patients group (2) compared with healthy group (1). The results also showed, the effect of age categories on uric acid blood urea nitrogen and creatinine values (P≤0.05) and there were no si
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The study aims to identify the common fears of preschool children and their relationship to the approaches to parental treatment in South Al Batinah Governorate from their mother’s point of view. Total of (466) mothers were selected as the study sample. The researcher used the scale of common fear and the scale of parental treatment approaches. The results of the study have shown that the most common fear among the study sample was (the fear of darkness) in the first level with a rate of 75.03%, and in the second level came the item (my child is afraid to sleep alone) by 72.74%, in the third level came to the item (fear of seeing insects) with a rate of 67.59%, and the last one was (the fear of rain) w
... Show MoreThis study includes synthesis of some nitrogenous heterocyclic compounds linked to amino acid esters or heterocyclic amines that may have a potential activity as antimicrobial and/or cytotoxic. Quinolines are an important group of organic compounds that possess useful biological activity as antibacterial, antifungal and antitumor .8-Hydroxyquinoline (8-HQ) and numerous of its derivatives exhibit potent activities against fungi and bacteria which make them good candidates for the treatment of many parasitic and microbial infection diseases.
These pharmacological properties of quinolones aroused our interest in synthesizing several new compounds featuring heterocyclic rings of the quinoline derivatives linke
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