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.
The increasing complexity of how humans interact with and process information has demonstrated significant advancements in Natural Language Processing (NLP), transitioning from task-specific architectures to generalized frameworks applicable across multiple tasks. Despite their success, challenges persist in specialized domains such as translation, where instruction tuning may prioritize fluency over accuracy. Against this backdrop, the present study conducts a comparative evaluation of ChatGPT-Plus and DeepSeek (R1) on a high-fidelity bilingual retrieval-and-translation task. A single standardize prompt directs each model to access the Arabic-language news section of the College of Medicine, University of Baghdad, retrieve the three most r
... Show MoreAbstract The main purpose of the research is to clarify and investigate in details about Susan Glaspell’s role in shedding light on the predicament of women in American society in the early twentieth century showing how sense of the place played an important role in limiting the opportunities of female protagonists who try to escape the roles imposed upon them by society. Glaspell lived in the early twentieth century in the Midwest and tackled the important issues like: women's suffrage, birth control, socialism, union organizing when women were not able to vote or sit as a member on juries. Her Feminist cause is quite obvious through her works from her first one act play Suppressed Desire to the final three act play, Alison’s House. Th
... Show MoreThe research focuses on how to reach a mechanism that assists experts, engineers, and others in the architectural & engineering project to verify the co-existence of values and sustainability constituents in it. Research problem shows a clear lack, locally, in the interest to establish a value system and a list that cares about comprehending building components whether considering sustainable building criteria. Hypothesis shows that in order to head towards the applicable sustainable approach of buildings, then a local assessment system should be established to evaluate buildings during its life cycle, and from which buildings would be categorized as sustainable or not. Research aims at establishing main and general
... Show MoreAir-conditioning systems (ACs) are essential in hot and humid climates to ensure acceptable ambient air quality as well as thermal comfort for buildings users. It is essential to improve refrigeration system performance without increasing the effects of global warming potential (GWP) and ozone depletion potential (ODP). The main objective of this study is to evaluate the performance of an air conditioning system that operates with a liquid suction heat exchanger (LSHX) through implementing refrigerants with zero OPD and low GWP (i.e., R134a and R1234yf). Liquid suction heat exchanger (LSHX) was added to an automobile air conditioning system (AACS).When Liquid suction heat exchanger was added to the cycle, primary results indicated t
... Show MoreBackground: Esthetic correction represents one of the clinical conditions that required the use of laminate veneers in premolars region. Aim of the study: The purpose of this study was to evaluate the fracture strength of the laminate veneers in maxillary first premolars, fabricated from either composite (direct and indirect techniques) or ceramic CAD/CAM blocks. Materials and Methods: Fifty sound human maxillary premolar teeth were used in this in vitro study. Teeth were divided randomly into one control group and four experimental groups of ten teeth each; Group A: Restored with direct composite veneer (Filtek Z250 XT), Group B: Restored with indirect composite veneers (Filtek Z250 XT), Group C: Restored with lithium disilicate ceramic CA
... Show MoreGingivitis, the initial stage of periodontal disease, is characterised by inflammation driven by dental biofilm and associated with oxidative stress. Matcha tea, a powdered green tea rich in antioxidants, has shown potential health benefits. This study aimed to investigate the effect of Matcha tea consumption on clinical periodontal parameters and salivary antioxidant levels in patients with gingivitis.
A randomised controlled clinical trial was conducted with 41 participants diagnosed with gingivitis.
Here we determined the structure of a cold active family IV esterase (EstN7) cloned
A preventing shield for neutrons and gamma rays was designed using alternate layers of water and iron with pre-fixed dimensions in order to study the possibility of attenuating both neutrons and gamma-rays. ANISN CODE was prepared and adapted for the shield calculation using radiation doses calculation: Two groups of cross-section were used for each of neutrons and gamma-rays that rely on the one – dimensional transport equation using discrete ordinate's method, and through transforming cross-section values to values that are independent on the number of groups. The memory size required for the applied code was reduced and the results obtained were in agreement with those of standard acceptable document samples of cross –section, this a
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