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.
Abstract:
Under the state scenario, fiscal policy will not be able to use the oil surpluses optimally and economically and society, as long as these surpluses are not directed by public expenditure towards new productive investments and by following the path of fiscal policy after one year 2003 and until 2013 we note that it is based on the method of spending (excessive) consumption, and did not take any action towards the budget deficit planned at the beginning of the fiscal year, and the actual surplus at the end of the fiscal year, which represents the highest expenditure in the budget, Salaries and wages of workers in various government agencies with the expansion of spending on the security side.&n
... Show MoreIntroduction Oral biopsy is a fundamental diagnostic procedure in dentistry, essential for the early detection of oral cancer and other pathologies. While theoretical knowledge is a core component of dental education, the translation of this knowledge into clinical confidence and practical ability is critical for patient care. Objective: : evaluate the awareness, knowledge, and self-perceived ability to perform oral biopsies Material and Methods: A cross-sectional study was conducted among dental students. Participants (n=110) comprising 14 multiple-choice questions assessing key variables: knowledge of biopsy principles, techniques, lesion identification, specimen preservation, and ability to perform the procedure Results: While theoretica
... Show MoreObjective: to assess the awareness and knowledge of our medical students regarding dose levels of imaging procedures and radiation safety issues, and to conclude how the curriculum of clinical radiology in the college medical program impacts such knowledge.
Subjects and methods: this is a cross-sectional study conducted among 150 medical students in Alkindy College of Medicine between January 2021 to July 2021, regardless of their age or gender. The study included six grades according to the year 2020-2021. A questionnaire consisting of 12 multiple-choice questions was conducted via an online survey using Google Forms. The questions were divided into two parts
... Show MoreBackground: Genioglossus advancement is a surgical procedure to advance the tongue in some patients with obstructive sleep apnea syndrome.The important step in this procedure is that of accurately capturing the bone segment attached to the genioglossus muscle to avoid complications such as mandibular fracture, devitalization of the inferior incisor roots, and incomplete incorporation of the genioglossus Materials and Method: Computed tomography scans were taken for 53 Iraqi adult patients (28 male and 25 female) range from (18-35) years with skeletal class I classification and intact anterior mandible dentition included in this study using sagittal and axial sections. The measurements were done for genial tubercle and anterior mandibular re
... Show MoreObjectives: To assess the changes in blood vessel stiffness and digital pulse wave amplitude because of flowmediateddilatation, and to explore how these two variables change when endothelial dysfunction isexperimentally induced.Method: The experimental study was conducted at the departments of physiology at the College of Medicine,Mustansiriyah University, and the College of Medicine, Al-Iraqia University, Baghdad, Iraq, from October 14, 2021, toMay 31, 2022, and comprised healthy young males who were subjected to the flow-mediated dilatation techniqueon the left brachial artery. Pulse transit time and the amplitude of the digital pulse wave were measured duringreactive hyperaemia for 2.5 minutes from the left middle finger using a
... Show MoreHistorical scripts and Academic studies have bestrewed almost all the events of the movement of march 1941 . Yet the need was present to shine more light on important sides . These important sides were neglected due to some reasons among which came the absence of the historical material which can make a new historical detection. Then there were historical topics concerning our research which comes within context of sanitarily conditions , rarely seizes the attention of the researchers for many reasons some of them were not subjective.
The spread of Malaria among the British force was one of the sanitarily conditions that were related to the movement of march since their arrival to Basra city and its continuous spread after the second
The current study aims to investigate the effect of (SWOM) strategy on acquiring the psychological concepts of educational psychology course and its retention among education college students. To do this, a sample of (57) male and female student were intentionally selected from first grade, Kurdish department / college of education / Ibin Rushd of human sciences. The sample distributed on two classes, whereby the experimental group consisted of (28) student were taught according to the (SWOM) strategy while the control group made up of (29) student were taught based on the tradition method. The two researchers designed a scale included (50) item to measure students' achievement. The experiment lasted for ten weeks, SPSS was used
... Show MoreThe study aims at knowing the relationship between retirement problems and psychological flexibility, besides identifying the difference of retirement problems and psychological flexibility due to the wok place variable and sex variable.
The study sample consists of 250 registered retirees in both associations of the government and the UNRWA. The researcher had prepared and used a retirement problems scale and a psychological flexibility scale. The study findings show the following:
- The economic problems were greatly common by a relative weight of 76.3 %.
- The psychological compatibility was the most widespread domain in the psychological fl
The early childhood stage, which is usually described as establishing the development and growth of most of the child’s mental, psychological, moral, and physical abilities, so scientists and researchers have been interested in the growth and upbringing of the child, especially for the specified period between (6 until the age of 11) due to the importance of education in this stage. The age stage in terms of developing the child’s senses and experiences, because he is by nature inclined to play and draw in his instinctive activity, according to which his natural responses to stimuli and his contemplation of what surrounds him change. Since drawing plays an important role in raising a child from an emotional and intellectual point of vie
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