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 subject of the act and its transformations in the presentation is of great importance at the level of study, analysis and interpretation, and through that the researcher adopted the following title (The Dramatic Act and Its Transformations in the Iraqi Theatrical Show). The play of Black Astronomy was chosen as a sample for analysis, and the aim of the research came in order to achieve a special knowledge of the extent of the transformation that occurred between the dramatic structure of the act and theatrical embodiment and its multiple elements of operation in the Iraqi theatrical shows. It was limited to the show of the Iraqi theater in the year (2020) and included the theoretical framework that accommodated three sections. As for
... Show MoreA new human-based heuristic optimization method, named the Snooker-Based Optimization Algorithm (SBOA), is introduced in this study. The inspiration for this method is drawn from the traits of sales elites—those qualities every salesperson aspires to possess. Typically, salespersons strive to enhance their skills through autonomous learning or by seeking guidance from others. Furthermore, they engage in regular communication with customers to gain approval for their products or services. Building upon this concept, SBOA aims to find the optimal solution within a given search space, traversing all positions to obtain all possible values. To assesses the feasibility and effectiveness of SBOA in comparison to other algorithms, we conducte
... Show MoreThe semiotic trend of recent monetary trends task that took a wide range of attention of critics and readers alike, especially after the deployment, which accompanied him after widespread acts critic Grimas and powers applicable to the literary texts and is thus expanded its care circle, hence the choice of the novel (absent) woman Iraqi novelist (Mahdi ‘Issa falcon) model to be applied to the study chose to be a semiotic approach through the use of procedural mechanisms for its critical tool (Paris School of semiotics), cash and views of its founder critic Grimas.The research in the introduction and pave came we made it a vision for literary semiotic and its impact trend in cash and cash is and what it desire to clarify some poked suc
... Show MoreThe basis of the personality of each individual lies in the early years of his or her life. If the personality of the child has been well organized and if the motives have been fully expressed and effectively directed, the child will have a strong will, happy self-confidence and a strong personality. If there is a failure In the early years, the individual will be unable to meet his responsibilities in life and may be the victim of many psychological disorders. The family is a learning process through which children acquire the customs, traditions, attitudes and values prevailing in their social environment. (Pre-and-after) play and its relationship to parenting methods of (democratic-bullying-overprotection- and neglect), which wi
... Show MoreThe recent study aimed to identify the level of Self- Esteem and its relation to some variables (Gender, Experience years, and Educational stage) among psychologists in schools of the Sultanate of Oman. The study sample consisted of (154) psychologists of both male and female who are working in different stages of study in the schools affiliated to the Ministry of Education in the Sultanate of Oman. The sample of the study consisted of (43) male and (111) female psychologists from (11) governorates of the Sultanate. The descriptive analytical methodology was used. In order to collect data the Self-Esteem questionnaire prepared by the researcher were used. Statistical processing was done using the Statistical Package for Social Sciences (
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... Show MoreBackground: There are many congenital anomalies associated with cleft lip and/or palate. This research is to study the prevalence of congenitally missing teeth and supernumerary teeth in this population group. Materials and Method: One hundred eight cleft lip and/or palate Iraqi patients had participated in this study (57 male, 51 female), 3-12 years of age. 26 of them had orthopantomogram were within (6-12) years of age were inspected for congenitally missing teeth and supernumerary teeth. Patients whom age range 3-5 years were checked for the congenitally missing teeth by clinical examination with strongly insisting the teeth were not missed due to caries or trauma. Results: There were 19(73.076%) patients with 41 congenitally missing tee
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