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.
Type 2 diabetes mellitus (T2DM) is a chronic disorder that is a serious health concern all over the globe, it is linked to Interleukin-10 (IL-10) single nucleotide polymorphisms (SNPs) at the promoter region. On the other hand, diabetes influences the cellular and humoral immunity predisposing the patient to a variety of opportunistic parasites one of them is Toxoplasma gondii (T. gondii), which may infect any nucleated cell, including pancreatic cells. The purpose of this research was to explore the association of IL-10 genetic polymorphisms with T2DM and latent toxoplasmosis among Iraqi patients with T2DM. Fifty-five and fifty-eight venous blood samples were taken from T2DM patients and age-matched non-diabetic person
... Show MoreThe worsening of environmental problems has led to them being addressed by many entities, the most important of which are the top regulators. Federal Board of supreme audit Office is one of the most important regulators in Iraq. The problem of the research was the fundamental question of the extent to which the Federal Financial Supervisory Office was committed to implementing and exercising environmental control over the audited ones. The refore, the research was based on the main objective of questioning the role of the Federal Financial Supervisory Office in the exercise of environmental control and the compliance of those under its control, by identifying the antosai standards for environmental control, particularly the stand
... Show MoreBackground: Congenital heart disease is one of the most common developmental anomalies in children. These patients commonly have poor oral health that increase caries risk. Dental management of children with congenital heart disease requires special attention, because of their heightened susceptibility to infectious endocarditis. The aims of this study were to assess the severity of dental caries of primary and permanent teeth and treatment needs in relation to nutritional indicator (Body Mass Index) among children with congenital heart disease. Materials and Methods: In this case-control study, case group consisted of 399 patients aged between 6-12 years old with congenital heart disease were examined for dental status in Ibn Al-Bitar spec
... Show MoreA case–control study (80 patients with chronic hepatitis B virus [HBV] infection and 96 controls) was performed to evaluate the association of an IL12A gene variant (rs582537 A/C/G) with HBV infection. Allele G showed a signifcantly lower frequency in patients compared to controls (31.2 vs. 46.9%; probability [p]=0.009; corrected p [pc]=0.027) and was associated with a lower risk of HBV infection (odds ratio [OR]=0.49; 95% confdence interval [CI]=0.29–0.83). A similar lower risk was associated with genotypes CG (17.5 vs. 29.2; OR=0.25; 95% CI=0.08–0.81; p=0.02) and GG (10.0 vs. 16.7; OR=0.25; 95% CI=0.07–0.91; p=0.036), but the pc value was not signifcant (0.12 and 0.126, respec‑ tively). Serum IL35 levels showed signifcant difere
... Show MoreBackground: Several studies linked the development of steroid-resistant nephrotic syndrome (SRNS) to genetic variations in the multidrug resistance 1 (MDR1) gene, though a disparity in findings was underlined among children with different ethnic origins. Objective: This study examined the relationship between MDR1 variants (rs2032582 and rs2032583) and the risk of developing SRNS in Iraqi patients with idiopathic nephrotic syndrome (INS). Methods: This case-control study included children with steroid-sensitive INS (SSNS; n=30) and SRNS (n=30) from the Babylon Hospital for Maternity and Pediatrics. Sanger sequencing was used to determine the participants’ genotypes. Results: The rs2032582 genotypes and alleles were not associated
... Show MoreBackground: Breast cancer is the most common cancer in Iraq and the United Kingdom. While the disease is frequently diagnosed among middleaged Iraqi women at advanced stages accounting for the second cause of cancer-related deaths, breast cancer often affects elderly British women yielding the highest survival of all registered malignancies in the UK. Objective: To compare the clinical and pathological profiles of breast cancer among Iraqi and British women; correlating age at diagnosis with the tumor characteristics, receptor-defined biomarkers and phenotype patterns. Methods: This comparative retrospective study included the clinical and pathological characteristics of (1,940) consecutive female patients who were diagnosed with invasive b
... Show MoreAbortion is categorized as the termination of conception caused by the failure or removal of the embryo from the uterus before the conclusion of pregnancy. Microorganisms and genetic factors are two of the many factors associated with abortion. Cytomegalovirus is a widespread congenital virus infection pathogen that affects a wide variety of people. The prothrombin gene is one of the essential causes that trigger blood clotting and the function of abortion women, therefore the aim of the study is to detect and associate Cytomegalovirus and prothrombin gene mutation (Gene ID: 14061 in NCBI) with abortion through genetic and immunological methods. Five ml of whole blood was collected from an intravenous puncture and divided into two tubes,
... Show MoreThis study aimed to see how allicin (45mg/kg BW) affected diabetic Mellitus in male rats (DM). Forty male rats were utilized, and they were split into four groups at random for 42 days. T2 was treated with 45 mg/kg B.W of allicin dissolved in 1 ml of D.W daily and injected with a single dose of sodium citrate buffer (0.5ml Intra-Peritoneal IP), DM was induced in T1 and T2 by injection of a single dose of streptozotocin 50 mg/kg B.W IP, T1 was assigned as a positive control, T3 received 45 mg/kg B.W. of allicin dissolved in 1 ml D.W. every day, and a single dose of sodium citrate buffer was injected (0.5ml IP). When diabetic rats treated with allicin in T2 were compared to diabetic rats in T1, the findings indicated a significant increase (P
... Show MoreThe purpose of this study is to investigate the biostimulation effect of 532 nm CW laser on the metabolism of Saccharomyces cerevisiae yeast. Cells were irradiated by 532 nm Nd:YAG laser using 0.153 W/cm2 power density at 30, 45, 60,180 and 300 seconds exposure times in their respective orders. Intrafluorescence parameters were measured by detection the autofluorescence intensity, proliferation rate and Imaging the fluorescent mitochondria using confocal laser scanning microscope. The results showed that the 30 and 45 second exposure times seem to have stimulated changes in the cells that led to increase proliferation, viability and mitochondrial activity. Autofluorescence of cells increased after 45 and 60 seconds exposure time. After 3
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