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 novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) caused a pandemic of coronavirus disease 2019 (COVID-19) which represents a global public health crisis. Based on recent published studies, this review discusses current evidence related to the transmission, clinical characteristics, diagnosis, management and prevention of COVID-19. It is hoped that this review article will provide a benefit for the public to well understand and deal with this new virus, and give a reference for future researches.
The audience is one of the important practical elements in the theatrical show and its importance is not confined to its static activity as a receiver element only, rather it went beyond that issue as an effective and influential element in the proceedings of the show and the process of meaning construction, that it gains an active role in the construction and production of the connotation that influences and is influenced by the actor, where the communication channels are open between the two sides, consequently a kind of watching and joint interaction happens between them. Thus, it has become necessary for the actor to create a suitable environment for the onlookers in order for it to be an essential part of the show system. The
... Show MoreThe accumulation of sediment in reservoirs poses a major challenge that impacts the storage capacity, quality of water, and efficiency of hydroelectric power generation systems. Geospatial methods, including Geographic Information Systems (GIS) and Remote Sensing (RS), were used to assess Dukan Reservoir sediment quantities. Satellite and reservoir water level data from 2010 to 2022 were used for sedimentation assessment. The satellite data was used to analyze the water spread area, employing the Normalized Difference Water Index (NDWI) and Modified Normalized Difference Water Index (MNDWI) to enhance the water surface in the satellite imagery of Dukan Reservoir. The cone formula was employed to calculate the live storag
... Show MoreThis review examines how artificial intelligence (AI) including machine learning (ML), deep learning (DL), and the Internet of Things (IoT) is transforming operations across exploration, production, and refining in the Middle Eastern oil and gas sector. Using a systematic literature review approach, the study analyzes AI adoption in upstream, midstream, and downstream activities, with a focus on predictive maintenance, emission monitoring, and digital transformation. It identifies both opportunities and challenges in applying AI to achieve environmental and economic goals. Although adoption levels vary across the region, countries such as Saudi Arabia, the UAE, and Qatar are leading initiatives that align with global sustainability targets.
... Show MoreConcrete columns with hollow-core sections find widespread application owing to their excellent structural efficiency and efficient material utilization. However, corrosion poses a challenge in concrete buildings with steel reinforcement. This paper explores the possibility of using glass fiber-reinforced polymer (GFRP) reinforcement as a non-corrosive and economically viable substitute for steel reinforcement in short square hollow concrete columns. Twelve hollow short columns were meticulously prepared in the laboratory experiments and subjected to pure axial compressive loads until failure. All columns featured a hollow square section with exterior dimensions of (180 × 180) mm and 900 mm height. The columns were categorized into
... Show MoreA recent study compared experimentally the hydraulic and thermal activity of twisted tape inserts for two types, metal foam twisted tape (MFTT) and traditional twisted tape (TTT), in a double pipe heat exchanger. The investigation goal of the innovatively designed MFTT is to enhance the heat transfer process, which provides a higher thermal enhancement factor over those of TTT under the same conditions. Heat transfer activity in terms of Nusselt number (
The integration of nanomaterials in asphalt modification has emerged as a promising approach to enhance the performance of asphalt pavements, particularly under high-temperature conditions. Nanomaterials, due to their unique properties such as high surface area, exceptional mechanical strength, and thermal stability, offer significant improvements in the rheological properties, durability, and resistance to deformation of asphalt binders. This research reviewed the application of various nanomaterials, including nano silica, nano alumina, nano titanium, nano zinc, and carbon nanotubes in asphalt modification. The incorporation of these nanomaterials into asphalt mixtures has shown potential to increase the stiffness and high-tempera
... Show MoreThe study aims at showing the Importance of the Corporate of Governances to the Activate the quality and integrity of financial reports prepared inside the companies through explaining what they should be obliged to in writing the reports and financial and nonfinancial statements according to the international standards of accounting to be transparent and integral. It also aims at giving the independence that the auditors should enjoy through connecting them to an Auditing Commissions to submit additional services in addition to assessing the instrument of control to evaluate risks, give consultations and the services related to the governance and independence of Supervising Council. &
... Show MoreABSTRACT
Threw this research to the following:
1 - Know the impact of strategy Puglia in the collection of the rules of the Arabic language
students at the Institute of preparation parameters .
2 - Know the impact of the retention strategy in Puglia collection rules Arabic language
students at the Institute of preparation parameters .
To verify the status Mmermaa Find researcher Elsafreeten following two hypotheses :
1 - There is no statistically significant difference between the average score for the collection
of the fourth grade students at the Institute for the preparation of material parameters who
were studying grammar strategy Puglia and average grades collectible fourth grade
students at the Institu
تعد الموازنة الأداة الأساسية لتنفيذ أولويات أية دولة، ويتوجب النظر إليها في ضوء المناخ الاجتماعي والسياسي والاقتصادي، لأنها تساعد في توجيه الاقتصاد لتحقيق النمو ورفع مستوى الرفاهية. اعتمدت وزارة المالية في أعداد الموازنة السنوية بعد 9/4/ 2003 أسلوباً مغايراً لما كان معتمداً في العقود الماضية، إذ كانت هناك موازنتين الأولى الموازنة الجارية، والثانية الموازنة الاستثمارية رغم وجود قانون يحتم إصدار موازنة
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