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.
Background: Hyperthyroidism is a serious public concern, due the continuous increase in its prevalence and its impact on the mortality rates. Autoimmune hyperthyroidism is seen as a thyroid gland problem. Pro-inflammatory cytokines are crucial for the growth and development of hyperthyroidism, it was shown that the level of several pro-inflammatory cytokines were higher in the hyperthyroidism patients. Objective: This work was aimed to assessment the concentration of certain cytokine in hyperthyroid patients. Materials and Methods: Sixty hyperthyroidism patients and 30 healthy individuals with age range from (30-65) years old were enrolled in this study through their presence at the National Center for Diabetes Treatment and Research in Bag
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This study aims to identify the level of emotional intelligence among principals of basic education schools in Al-Dakhiliya Governorate. The descriptive approach was used. A questionnaire of two parts was utilized; its second part included (27) items divided into five dimensions related to emotional intelligence. The study sample consisted of (337) teachers representing 52% of the study sample were randomly selected. The study result showed that level of the emotional intelligence is high and the motivation dimension is the highest. There were no statistical differences at the level (α≤ 0.05) due to the impact of (the social type, the educational qualification, and the years of experience) in all the
... Show MoreThis research has been applied on 100 children (age 4 – 6 years) from three kindergartens distributed on basis of 43 children from the college of Education for women kindergarten (A) , 27 children from the governmental Al- Mustafa kindergarten (B) , and 30 children from the private Al – Baraom kindergarten (C) . Details concerning their school meals, already prepared at home , have been analyzed according to their dietary components taken from the tables of the dietary values .The statistical analysis results have shown no significant difference (p< 0.01) in the intake of energy , protein and thiamin between the children of A and C kindergartens while these children have significantly recieved higher amounts of the above nutrien
... Show MoreThis study includes synthesis of some nitrogenous heterocyclic compounds linked to amino acid esters or heterocyclic amines that may have a potential activity as antimicrobial and/or cytotoxic. Quinolines are an important group of organic compounds that possess useful biological activity as antibacterial, antifungal and antitumor .8-Hydroxyquinoline (8-HQ) and numerous of its derivatives exhibit potent activities against fungi and bacteria which make them good candidates for the treatment of many parasitic and microbial infection diseases.
These pharmacological properties of quinolones aroused our interest in synthesizing several new compounds featuring heterocyclic rings of the quinoline derivatives linke
... Show MoreThis work has been carried out to develop national drug product contains 2.5mg/ml clonazepam as oral drop; it is used for the treatment of epilepsy in infants and children.
Several formulations were prepared using oral drop base, flavor, buffer, sweeteners and preservatives. Selection of best formula relied solely on physic-chemical testing of samples.
Stability study was conducted on the product for six months at different temperatures to determine the expiration date and the best storage conditions.
From the study we obtained an oral drop of good clear solution. The expiry date calculated to be not less than 2 years.
The current work aims to evaluate the association between genetic mutations in thymidylate synthetase (