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.
This narrative review focused on research investigating the impact of loneliness on the prevalence of dementia and its relationship with other risk factors. A comprehensive and rigorous search was conducted using a variety of scientific databases with specific keywords to identify all prior studies that examined the correlation between dementia and loneliness. The inquiry was confined to articles published in English from January 2017 to March 2024. The narrative review identified a consensus regarding the role of loneliness in enhancing the risk of all‐cause dementia, with a particular emphasis on the subjective perception of loneliness. This phenomenon may be caused by the sensations of exclusion, discrimination, and alienation that are
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The current research aims to validate the Effect of technical innovation on human resources management ambidexterity through job embeddedness. The current research was done in Al-Etihad Food Industries Co. Ltd. And within the industrial environment, the research was designed according to the descriptive research. And to achieve the main goal of the research above, the researcher used the questionnaire as a key instrument to collect data through the views of a sample of managers, and employees at the senior, middle and executive management level. The research sample reached (107) individuals, the data were analysed using the statistical packages (SPSS v. 26) and ( SMART PLS v 3. 3. 8) the group of statistical
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... Show MoreThe main aim of this research study is to point out the vital importance of high-quality exterior audits to limit discretionary accounting, as it could distort a company’s commercial results. The research introduces a well-founded hypothesis on the preventive powers of high-quality audits, as it can act as a strong exterior control. The research focuses on testing the complex relationship between earnings management and investors’ behavior within the public-listed companies from the food industry. The research gathers credible annual comprehensive data from thirty-five publicly-listed firms from the United States. It encompasses the twenty years prior to 2024, as it includes the twenty years prior to 2024. Additionally, the gathered dat
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... Show MoreTo get access into the orbital floor 3 paths are commonly used which are transconjunctival, subciliary and subtarsal approaches. Each one of these approaches has its advantages and disadvantages. The study assessed the outcomes of the transconjunctival retroseptal approach, which reflects our experience in this type of surgery. Along 8 years, 26 patients received in the emergency room diagnosed with pure isolated orbital floor fractures, all of them admitted to the maxillofacial surgery department and approached by transconjunctival incision without lateral canthotomy. Three types of complications occurred: laceration of the lower eyelid, injury to the lacrimal system and entropion. All of these complications were managed accordingly with n
... Show MoreAfter the information revolution that occurred in the Western world, and the developments in all fields, especially in the field of education and e-learning, from an integrated system based on the effective employment of information and communication technology in the teaching and learning processes through an environment rich in computer and Internet applications, the community and the learner were able to access information sources and learning at any time and place, in a way that achieves mutual interaction between the elements of the system and the surrounding environment. After the occurrence of the phenomenon of Covid 19, it led to a major interruption in all educational systems that had never happened before, and the disrupt
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The esophageal morphology of domestic fowl (Gallus gallus domesticus) was investigated to fillthe dearth of information on the morphology of esophagus from available literature and help inunderstanding its digestive tract biology. The esophagus is under study as musculomembranous tubularshape, it began from oropharyngeal cavity and terminated on the proventriculus. The esophagus wasdivided into three regions are represented by cervical part, crop, and Thoracic part. Internal lining of theesophagus consisted of un-branched straight longitudinal folds The length of the cervical part, crop andthoracic part were 11.5 cm, 3.5 cm, 6 cm respectively.