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: Colorectal cancer is the third most common cancer-related mortality worldwide, and its prevalence is increasing among many nations. Aim of the study: Investigate the predictive value of carbohydrate antigen 242 (CA242) in comparison to the CEA biomarker and to estimate the significance of CA242 as prognosis maker in colorectal cancer patients. Methods: a case-control study with a total of 150 individuals, 100 patients (59 males, 41 females) and 50 healthy controls (26 males, 24 females). using an enzyme-linked immunosorbent (ELISA) to determine the serum levels of CA242 and CEA. The study was carried out at the gastroenterology consultation clinic of the oncology teaching hospital between November 2020 and February
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The current research aims to identify the effectiveness of social stories in increasing social interaction among children with an autism spectrum disorder. The researcher used the single-subject design methodology (Single Subject Designs, SSD) with
(A-B) design to answer the research questions. The study sample consisted of (3) children with autism spectrum disorder enrolled in a transit daycare center in the Asir region, Saudi Arabia. The results of the study showed that there is a positive functional relationship between social stories and play to increase social interaction among children with autism spectrum disorder, which contributed to the acquisition and generalization of this behav
... Show MoreRheumatoid arthritis is a worldwide inflammatory chronic autoimmune disease with varying severity. Due to no definitive cure for this disease, current therapies aim to decrease the pain and slow further damage. The interleukin (IL)‐36 cytokine was little known for its role in rheumatoid arthritis; this research aimed to evaluate the serum IL36 levels in RA patients compared to healthy controls. This study included 80 patients with rheumatoid arthritis registered at the Rheumatology Clinic in Baghdad teaching hospital. The patients were divided into three groups based on the treatments received. Group 1 included patients treated with biological therapy (etanercept, adalimumab), Group2 patients with non-biological treatment (methotr
... Show MoreObjective: This research aimed to study the relation between maximal bite force (MBF) and maximum mouth opening among 12-year-old school children. Methods: In this cross-sectional study, a total of 400 children aged 12 years (194 boys and 206 girls) were examined. The MBF for the right and left side, as well as the anterior region, were evaluated for all children. The MMO was measured using an electronic digital caliper. To analyze the data path analysis method was used. Results: Boys showed a higher MMO of 48.797 ± 6.500 than girls (46.710 ± 5.926 mm). The MMO increased with increasing MBF, with significant differences between females and males. Conclusion: The MMO was higher in boys than in girls. Gender plays a significant ro
... Show MoreMedia studies have focused mostly on the issue of the mental image because the image that is formed in the mind has become not only a photo of a human being and having kept for himself. This image has an outside influence which may sometimes up to the formation of the fate of others and it sometimes includes individuals and groups together.
This study comes in the context of identifying the image of Iraqi political parties among Iraqi university students and the nature of the view that students have in their minds about these parties.
Chapter one includes the problem of the research, the importance of the study, the goals and method used. Chapter two is divided into two sections: section one deals with the concept of the mental i
This study aims to identify the anxiety pregnant women have of dying, in the light of some Demographic variables in Bethlehem (age, residence, and the mother's job). The descriptive method was used in this study. To achieve the study purposes, the researchers developed a questionnaire as a tool of study, which consisted of (19) paragraphs ,after been verified of its validity & stability.
The researchers distributed questionnaires, and then analyzed them. Results illustrated that the levels of anxiety pregnant women in Bethlehem had of dying was average, with a mean total score of (3.11), and with a standard deviation that had the total score of (0.476). Results also illustrated statistical differences in the pregn
... Show MoreHistone deacetylase inhibitors with zinc binding groups often exhibit drawbacks like non-selectivity or toxic effects. Thus, there are continuous efforts to modify the currently available inhibitors or to discover new derivatives to overcome these problems. One approach is to synthesize new compounds with novel zinc binding groups. The present study describes the utilization of acyl thiourea functionality, known to possess the ability to complex with metals, to be a novel zinc binding group incorporated into the designed histone deacetylase inhibitors. N-adipoyl monoanilide thiourea (4) and N-pimeloyl monoanilide thiourea (5) have been synthesized and characterized successfully. They showed inhibition of growth of human colon adenoc
... Show MoreTuberculosis (TB) still remains an important medical problem due to high levels of morbidity and mortality worldwide. A series of innate immune mechanisms that create a cytokine network control the pathogenesis of tuberculosis and this response has the capacity to modify the host genomic DNA structure through epigenetic mechanisms such as DNA methylation which could constantly alter the local gene expression pattern that can modulate the metabolism of the tissues and the immune-response. Interferon-gamma (IFN-γ) is an important pro-inflammatory cytokine regulator of the innate immune response to TB. This study aims to determine DNA methylation patterns of INF-γ gene promoter and measure serum IFN- γ level in newly diagnosed TB patient
... Show MoreAfter we completed this book search we must extraction most important the findings.
Event of war a majar impact on same as all human being but signed and its impact in the
psyche of iraqi woman unparalleled result of the suffering that were produced by these wars
that contributed to the destabilization of Her life at all levels a woman has lost her father,
husband and son an brother as well as extreme poverty caused by the economic blockade
brought in to existence wars that exacerbated the suffering was the woman to work and
economic in order to provide a living for her and her family and pre – empt the dreams and
ambitions so he excelled writer Iraqi in portraying the succession of wars that ate every thing
and
The subgrade soil is the foundation plate form of the roadway; it should sustain its structural characteristics throughout the design life of the roadway with minimal requirements for maintenance. When Gypseous soil is implemented in the construction of subgrade, problems regarding collapsibility and poor structural capacity usually occur when the subgrade came in touch with excess water. Asphalt stabilization could furnish a proper solution to such problems. In this investigation, an attempt has been made to monitor the variations in compressibility characteristics of asphalt stabilized subgrade soil subjected to 30 cycles of (freezing-thawing) and (heating-cooling). Data have been observed after each 10 cycles, and compared with that of r
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