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.
Production and characterization of methionine γ- lyase from Pseudomonas putida and its effect on cancer cell lines
In this study, nickel cobaltite (NC) nanoparticles were created using the sol-gel process and used as an adsorbent to adsorb methyl green dye (MG) from aqueous solutions. The adequate preparation of nickel cobaltite nanoparticles was verified using FT-IR, SEM, and X-ray diffraction (XRD) studies. The crystalline particle size of NC nanoparticles was 10.53 nm. The effects of a number of experimental variables, such as temperature, adsorbent dosage, and contact time, were examined. The optimal contact time and adsorbent dosage were 120 minutes and 4.5 mg/L, respectively. Four kinetic models—an intraparticle diffusion, a pseudo-first-order equation, a pseudo-second-order equation, and the Boyd equation—were employed to monitor the adsorpti
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Multipoint forming process is an engineering concept which means that the working surface of the punch and die is produced as hemispherical ends of individual active elements (called pins), where each pin can be independently, vertically displaced using a geometrically reconfigurable die. Several different products can be made without changing tools saved precious production time. Also, the manufacturing of very expensive rigid dies is reduced, and a lot of expenses are saved. But the most important aspects of using such types of equipment are the flexibility of the tooling. This paper presents an experimental investigation of the effect of three main parameters which are blank holder, rubber thickness and forming speed th
... Show MoreIn cooling water systems, cooling towers play a critical role in removing heat from the water. Cooling water systems are commonly used in industry to dispose the waste heat. An upward spray cooling water systems was especially designed and investigated in this work. The effect of two nanofluids (Al2O3/ water, black carbon /water) on velocity and temperature distributions along reverse spray cooling tower at various concentrations (0.02, 0.08, 0.1, 0.15, and 0.2 wt.%) were investigated, beside the effect of the inlet water temperature (35 ,40, and 45 ͦ C) and water to air flow ratio (L/G) of 0.5, 0.75, and 1. The best thermal performance was found when the working solution contained 0.1 wt.% for each of Al2
... Show MoreThis research sought to present a concept of cross-sectional data models, A crucial double data to take the impact of the change in time and obtained from the measured phenomenon of repeated observations in different time periods, Where the models of the panel data were defined by different types of fixed , random and mixed, and Comparing them by studying and analyzing the mathematical relationship between the influence of time with a set of basic variables Which are the main axes on which the research is based and is represented by the monthly revenue of the working individual and the profits it generates, which represents the variable response And its relationship to a set of explanatory variables represented by the
... Show MoreSeveral toxigenic cyanobacteria produce the cyanotoxin (microcystin). Being a health and environmental hazard, screening of water sources for the presence of microcystin is increasingly becoming a recommended environmental procedure in many countries of the world. This study was conducted to assess the ability of freshwater cyanobacterial species Westiellopsis prolifica to produce microcystins in Iraqi freshwaters via using molecular and immunological tools. The toxigenicity of W. prolifica was compared via laboratory experiments with other dominant bloom-forming cyanobacteria isolated from the Tigris River: Microcystis aeruginosa, Chroococcus turigidus, Nostoc carneum, and Lyngbya sp. signifi
... Show MoreBackground: Fetal macrosomia is usually distressing to obstetricians and neonatologists. In the current study, involved mothers had poor social and medical circumstances, as they were migrated forcefully within the country borders due to war, from their original homeland to safer camps which had miserable situations. Objectives: To study rate, risk factors, and complications of macrosomia in people with low socio-economic living conditions and missed medical follow up. Methods: All internally displaced pregnant women who gave birth to neonates weighed ≥4000 g were involved in the study. All required history, examination, care, and investigations were practiced by the attending obstetrician and neonatologist. Cases of normal birth weight n
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