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.
تعد الرماية واحدة من الألعاب التي يقاس مستوى الانجاز فيها بالأرقام إذ ارتفعت الأرقام المسجلة بالنسبة لسلاح المسدس الهوائي حتى وصلت عند بعض الأبطال العالميين إلى الانجاز النهائي ، وقد لجأ المدربون إلى مختلف الطرق التدريبية, وان ضعف الثبات والتركيز هما اللذان يقودان إلى هبوط مستوى الانجاز في الرماية ، ولتحقيق التركيز والثبات المطلوبين أثناء الرمي يجب التدريب على مطاولة حمل السلاح التي تعد من أصعب تدريبات الر
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Background: Dental caries is one of the most prevalent chronic diseases of people worldwide that lead to the pain and disability across all age groups and still consider as a major cause of tooth loss. The aim of this study was to assess the prevalence and severity of dental caries and treatment needs among school children in Heet city. Materiales and methods: The sample included all school children at age of (12 years old) males and females from urban areas in Heet city. Diagnosis and recording of dental caries and treatment needs were done according to the criteria of WHO. Results: The prevalence of dental caries was (90.2%). The DMFS/dmfs values were (5.85±0.168, 1.57±0.146) respectively for the total sample. Females were foun
... Show MoreBackground: Birth weight is a powerful predictor of infant growth and survival. Evidence now shows that children born with low birth weight face an increased risk of chronic diseases and have many health problems including oral health. The aims of this study were to assess the salivary flow rate, viscosity, and salivary cortisol among low birth weight kindergarten children aged 5 years old in Hilla centre, in relation to dental caries and compares them with the normal birth weight children of the same age and gender. Materials and methods: The total sample involved 80 children (40 low birth weights and 40 normal birth weights) aged 5 years old. The diagnosis and recording of severity of dental caries was recorded through the application of
... Show MoreBackground: The autism spectrum disorder (ASD) describes a wide range of symptoms, including difficulty with social interaction and communication skills. Controversial thinking about oral health of children with ASD, in general may have a lower hygiene level than healthy individuals, low caries rate and high body weight in comparison to healthy children. This study was conducted to assess the oral health status in relation to nutritional status among institutionalized autistic children and adolescents. Materials and methods: From 12 institutes in Baghdad, the study group contained 364 child and adolescent with ASD (Male= 294, Female=70), while control group included 441 normal child and adolescent (Male=357, Female=84) from primary and seco
... Show MoreNA Nasir, SHM Ali, HQMA AL-Ess, WA Hussein, MKW Al-Janabi, KIA Mohammed, JM Mosa, Euromediterranean Biomedical Journal, 2020
This study investigates the impact of spatial resolution enhancement on supervised classification accuracy using Landsat 9 satellite imagery, achieved through pan-sharpening techniques leveraging Sentinel-2 data. Various methods were employed to synthesize a panchromatic (PAN) band from Sentinel-2 data, including dimension reduction algorithms and weighted averages based on correlation coefficients and standard deviation. Three pan-sharpening algorithms (Gram-Schmidt, Principal Components Analysis, Nearest Neighbour Diffusion) were employed, and their efficacy was assessed using seven fidelity criteria. Classification tasks were performed utilizing Support Vector Machine and Maximum Likelihood algorithms. Results reveal that specifi
... Show MoreThis paper involved the registration of 1,936 cases of infection of the Leishmania tropica parasite observed at hospitals and health centers in Ramadi, Fallujah, Baghdadi, and Hit during 2017. The results revealed that the highest rates of infection were found in Ramadi and Fallujah. The 1-10 years age group recorded the highest rate at 35.5%. There was no significant difference (p ≥ 0.05) between the sexes. December and January saw the highest rate of infection, where the rate in rural townships was found to be 65.5%, higher than in urban regions which saw a rate of 34.4%. Facial lesions were the most prominent area of infection, recorded at a rate of 41.3%. The study also included an examination of 180 rodents (94 mice and 86 black r
... Show MoreFree radicals are small extremely reactive species that have unpaired electrons. Free radicals include subgroups of reactive species, which are all a product of regular cellular metabolism. Oxidative stress happens when the free radicals production exceeds the capacity of the antioxidant system in the body’s cells.
The current review clarifies the prospective role of antioxidants in the inhibition and healing of diseases.
Information on oxidative stress, free radicals, reactive oxidant species, and natural and synthetic antioxidants was obta