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.
S Khalifa E, AM Sabeeh A, AN Adil A, AW Ghassan H…, 2007
The pandemic SARS-CoV-2 is highly transmittable with its proliferation among nations. This study aims to design and exploring the efficacy of novel nirmatrelvir derivatives as SARS entry inhibitors by adapting a molecular modeling approach combined with theoretical design. The study focuses on the preparation of these derivatives and understanding their effectiveness, with a special focus on their binding affinity to the S protein, which is pivotal for the virus’s access to the host cell. Considering molecular docking aspects in the scope of a study on nirmatrelvir derivatives and S protein, dynamics simulations with 25 nanoseconds of their binding are explored. The study shows that these derivatives might work as effective antivi
... Show MoreWith the study of synthesizing new organic compounds and exploring biological potency. Aryldiazenyl derivatives (2-5) were carried out by coupling of diazonium salt of 4-aminoacetophenone (1) and miscellaneous active methylene compounds such as: acetylacetone, ethyl cyanoacetate, dimedone or methyl acetoacetate. Moreover substituted 1,2,3-triazole (7-9) were synthesized by the cyclization of 1-(4-azidophenyl) ethanone (6); (which was obtained by coupling of diazonium salt (1) with sodium azid); with acetylacetone, methyl acetoacetate or methyl cyanoacetate, respectively. The structures of the prepared compounds were promoted by IR, H1NMR and UV/Visible spectra. Further, they were examined in vetro for antibacterial activity against five str
... Show MoreAutorías: Ismael Saleem Abed, Imad Kadhim Khlaif, Salah Mahmood Salman. Localización: Revista iberoamericana de psicología del ejercicio y el deporte. Nº. 5, 2022. Artículo de Revista en Dialnet.
A Raman spectroscopy method was optimised to examine the chemical changes of aspirin tablets after interaction with helium temperatures. Several aspirin tablets were exposed to plasma-assisted desorption ionisation flame for different times (10, 30, 50, 60, 180 and 300s) and then analysed by Raman spectroscopy using optimal conditions. The changes in chemistry between exposed and fresh (without exposure to plasma) tablets were compared. The vibrational peaks of the aspirin molecule in the Raman spectrum were identified by checking the peak position. The results showed clear spectra with increases in intensity of vibrational peaks until 30s, whereas no spectra were measured for the exposed tablets to plasma flame after 50s. It can, the
... Show MoreMonitoring and analysing of the vertical deformations or the settlements of the structures is one of the main research fields in geodetic applications, which is considered a precise periodic measurement, made at different epochs to investigate these deformations on heavy structures.
In this research, the deformation measurements were carried out on one of Baghdad University buildings,” Building of Computers Department” of dimensions (70.0 * 81.3 m.). Due to some cracks observed in their walls, it was necessary to monitor the vertical displacement of this building at some particular monitoring points by constructing a vertical network and measured in different epochs. The first epoch (zero epoch) was carried out in April 2006, the
Water Quality Index (WQI) as a tool to assess the water quality status provides advice related to the use of water quality monitoring data and it is a way for combining the complex water quality data into a single value or single statement.The present study was conducted on Al- Hilla river in the middle of Iraq from August 2012 to July 2013 at five selected stations in the river, from Al- Musaib city to Al- Hashimya at the south of Hilla to determine its suitability for aquatic environment (GWQI), drinking water (PWSI) and irrigation (IWQI).This index offers a useful representation of the overall quality of water for public or any intended use as well as indicating pollution, water quality management, and decision making. According to th
... Show MoreIn this study 100 samples were collected from infected children with acute and chronic tonsillitis who attended to Al-Yarmook Teaching Hospital (ENT consultation clinic) from 5/12/2013 to 1/3/2014. The result of laboratory culture was positive in 67 samples. Depending on their cultural, morphological and biochemical characterization of bacterial isolate of them were identified as (37.31%) belonged to Streptococcus pyogenes and the diagnosis is confirmed by the use of Remel Rapid STR System, (34.32%) belonged to S.parasanguinis, (11.94%) S.mitis, (11.94%) S.oralis and (4.47%) S.thoraltensis . Results confirmed that cup assay gave highest inhibition zone after 24 hrs compare with well diffusion methods for suspension of L.
... Show MoreBackground: Malnutrition in human life may adversely affect various aspects of growth at different stages of life. Teeth are particularly sensitive to malnutrition. Malnutrition may affect odontometric measurement involving tooth size dimensions. The aim of this study is to estimate the effect of nutrition on teeth size dimension measurements among children aged 5 years old. Materials and methods: This study was conducted among malnourished group in comparison to well-nourished group matching with age and gender. The present study included 158 children aged 5 years (78 malnourished and 80 well-nourished). The assessment of nutritional status was done by using three nutritional indicators, namely Height-for-age, Weight-for-age and Weight-fo
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