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.
BACKGROUND: Keratoconus is a progressive non inflammatory bilateral (usually asymmetric) ectatic corneal disease characterized by paraxial stromal thinning ,weakening that lead to corneal surface distortion ,vision loss primarily from irregular astigmatism and myopia and secondly from corneal scar. OBJECTIVE: To evaluate visual and refractive outcomes after intracorneal continuous ring (ICCR) implantation combined with intrapocket corneal collagen cross linking in patient with keratoconus. Setting: Eye Specialty Private Hospital, Baghdad, Iraq. METHODS: This study assessed the results of implantation of Myoring ICCR combined with CXL in 40 eyes with KC. Outcome measures include UDVA,CDVA(spectacle correction),refraction, complications and s
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... Show MoreIn this work, some mechanical properties of the polymer coating were improved by preparing a hybrid system containing Graphene (GR) of different weight percentages (0.25, 0.5, 1, and 2wt%) with 5wt% carbon fibres (CF) and added to a polymer coating by using casting method. The properties were improved as GR was added with further improvement on adding 5wt% of CF. The impact strength of acrylic polymer with GR increases with increasing weight ratio of GR; maximum value was obtained when the polymer coating was incorporated with 1wt% GR and 5wt% CF. The impact strength of acrylic polymer with GR and GR/CF composites incorporated with GR at 1wt% and CF at 5wt%. Hardness increase with increasing weight ratio of Gr and a significant imp
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