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 right of the patient to know the medical risks surrounding the medical intervention is one of the most prominent rights based on the principle of "physical safety", which has undergone several stages of development until it reached the development of the patient's independence in making medical decision without relying on the doctor, The patient's prior informed consent is informed of his / her medical condition. We will study this development in accordance with the French March 4, 2002 legislation on the rights of patients in the health system, whether it was earlier and later. We will highlight the development of the patient's right to "know the medical risks surrounding medical intervention" The legislation and its comparison with th
... Show MoreThe research seeks to identify the impact of fraud detection skills in the settlement of compensatory claims for the fire and accident insurance portfolio and the reflection of these skills in preventing and reducing the payment of undue compensation to some who seek profit and enrichment at the expense of the insurance contract. And compensatory claims in the portfolio of fire and accident insurance in the two research companies, which show the effect and positive return of the detection skills and settlement of the compensation on the amount of actual compensation against the claims inflated by some of the insured, The research sample consisted of (70) respondents from a community size (85) individuals between the director and assistan
... Show MoreObjective: To evaluate the functional outcome of percutaneous cross two K wires fixation for Gartland types II and III fractures of humerus. Methodology: This prospective study included80 patients with supracondylar humeral fracture, who underwent closed reduction and fixation by two crossed Kirschner wires. We included children with age < 15 years with closed fractures with Gartland types II and III, while the patient with vascular injury, open, irreducible fractures were excluded. The patients were following up for 6 months and assessed functionally by Flynn’s criteria. Results: The mean age of patients was 8.1 years. Trauma while child playing was the main mechanism of injury in 43 (59.8%) children and 46 (57.5%) fractures were of the
... Show MoreWomen with diabetes in pregnancy (type 1, type 2 and gestational) are at increased risk for adverse pregnancy outcomes which also include infant development of congenital heart disease and even fetal death. Adequate glycemic control before and during pregnancy is crucial to improve outcome
Background: Saliva is one of the most important etiological host factors in relation to dental caries. It affects the carious process by its organic and inorganic constituents; in addition to its physiological functions as (flow rate, pH and buffer capacity). The aims of this study were to determine the concentrations of major elements (calcium and phosphorus) and trace elements (ferrous iron, nickel, chromium and aluminum) in saliva among a group of adolescent girls, and to explore the relation of these elements, flow rate and pH with dental caries. Material & Methods: The study group consisted of 25 girls with an age of 13-15 years old. Dental caries was diagnosed by both clinical and radiographical examinations following the criteria of
... Show MoreThis study was carried out to investigate the preparation of thermosetting polymeric blend consisting of three adhesive types, namely: epoxy, polyvinyl formal (PVF) and unsaturated polyester. Both of epoxy and PVF were used as a matrix-binder at fixed weight. Whilst unsaturated polyester was used at different weights and added to the matrix so as to produce prepared epoxy-PVF-unsaturated polyester blend. Several experiments were performed at different operating conditions, mixing speed and time at room temperature to identify the most favorable operating conditions. The optimum mixing speed and mixing time for the prepared blend were 500rpm and 5 minutes respectively.
Solid wastes-synthetic sack fib
... Show MoreThe Glass Manegerie is a metaphor, which is one of the greatest plays of great writer Williams. The play talks about the poor people in society and how try to escape this group of people from the real world to get rid of the hardness of this tuff reality and live in a fantasy world that is much like the glass where the world is very weak this world is acting by Laura, she is owner of these animals breakable glass where it's weak and unable to defend itself as well as the mother Amanda is a very selfish never think about her children but only herself.
The Iraqi- Kuwaiti relations had witnessed a lot of problems which had its impact on them, at the fore front is the frontier issue, and the Iraqi invasion of Kuwait in 1990 which led to the severance of relations between them and had strengthened the disagreement and the dispute and raised the animosity and tension.
After 2003, Iraq has witnessed a lot of changes which affected Iraq and the region as a whole.
Under the new political developments in Iraq, a now phase has started in the relations between the two parts. which is based on the emphasis on building new relations based on the mutual respect and non intervention in the internal affairs of both countries, and in accordance with the principles of the international law, and w
Elevated C-Reactive Protein (CRP) level in serum is a risk factor for type 2 diabetes ,this relationship is likely to be the cause it means elevated CRP leads to T2D in future . Our objective was to examine CRP in male Type 2 Diabetes(T2D) patients in different age ,we studied 120 male subjects divided to two groups according to their age. First group A age (31 - 40) year old ,60 person )30 control & 30 T2D patients(,3 person for each same age: second group B age (41 – 50) years old ,60 person )30 control & 30 T2D patients(,3 person for each same age. We examined blood sugar ,cholesterol and CRP in each group. and we toke the mean of samples in the same age in each data in all the 4 groups. Our data shows that CRP
... Show More