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
Mitoxantrone is an antitumor agent used in the treatment of breast and prostate cancer, acute leukemia, lymphoma, and also in the treatment of multiple sclerosis due to its immunosuppressive properties. The mitoxantrone's cardiotoxicity is irreversible, dose-dependent, and it may occur years after treatment. Zinc is considered as an essential mineral for cell division and the synthesis of DNA and protein; furthermore, such mineral has an important role in states of cardiovascular diseases; and may have protective effects in coronary artery disease and cardiomyopathy.
Objective: The current study is designed to investigate effects of two different doses of zinc sulfat
... Show MoreBackground: Oil refinery workers are continuously exposed to numerous hazardous materials. Petroleum contains the heavy metals as a natural constituent or as additives. These metals induce the production of ROS which associated with an oxidative damage to DNA, proteins, and lipids. This study was conducted to assess the salivary levels of heavy metals, salivary oxidative status, oral immunological activity (salivary sIgA) and assessment of the oral findings among the workers of Al-Daura oil refinery in Baghdad city. Subjects, Materials and Methods: This study was done in Al-Daura oil refinery; samples consist of 60 workers involved in refinery processes (study group) and 20 non-workers (control group). Oral examination and saliva collection
... Show MoreThis research aimed to evaluate the level of readiness to teach science in the light of the information, media, and technology skills among undergraduate students at the Faculty of Edu-cation, King Khalid University. To achieve this goal, a descriptive and analytical approach was used. A list of readiness to teach science was prepared in the light of Information, media, and technology skills, and in the light of this list, a cognitive test, observation sheet, and attitude scale were prepared to assess readiness to teach science in its three aspects, cognitive, behavioral, and emotional. The sample of the research consisted of (42) students enrolled in field training courses at the sixth, seventh and eighth levels. Research tools were app
... Show MoreAutism is a lifelong developmental deficit that affects how people perceive the world and interact with each others. An estimated one in more than 100 people has autism. Autism affects almost four times as many boys than girls. The commonly used tools for analyzing the dataset of autism are FMRI, EEG, and more recently "eye tracking". A preliminary study on eye tracking trajectories of patients studied, showed a rudimentary statistical analysis (principal component analysis) provides interesting results on the statistical parameters that are studied such as the time spent in a region of interest. Another study, involving tools from Euclidean geometry and non-Euclidean, the trajectory of eye patients also showed interesting results. In this
... Show MoreSeparation of Trigonelline, the major alkaloid in fenugreek seeds, is difficult because the extract of these seeds usually contains Trigonelline, choline, mucilage, and steroidal saponins, in addition to some other substances. This study amis to isolate the quaternary ammonium alkaloid (Trigonelline) and choline from fenugreek seeds (Trigonella-foenum graecum L.) which have similar physiochemical properties by modifying of the classical method. Seeds were defatted and then extracted with methanol. The presence of alkaloids was detected by using Mayer's and Dragendorff's reagents. In this work, trigonilline was isolated with traces of choline by subsequent processes of purification using analytical and preparative TLC techniques.
... Show MoreThe objective of this work was to study the effect of oral administration of Cyperus esculentus (CE) and its alcoholic extract on sperm function parameters in prepubertal mice as a model for human .The animals were divided into three groups each contains 6 animals .Group 1 was treated with 150 mg/ kg body weight /day of crude CE, group 2 was treated with same dose of alcohol extract of CE and group 3 regarded as control throughout six weeks period. The results showed a significant (p> 0.05) increase in the mean of sperm concentration ,sperm motility percent and progressive sperm motility between treated groups and control . There was no differences among groups in the mean of sperm normal morphology and sperm viability . No significa
... Show MoreThe study was conducted for the detection of Aflatoxin B1(AFB1) in the serum and urine of 42 early and middle childhood patients (26 male and 16 female ) with renal function disease, liver function disease, in additional to atrophy in the growth and other symptoms depending on the information within consent obtained from each patient, in addition to 8 children, apparently healthy, as the control. The technique of HPLC was used for the detection of AFB1 from all samples. The results showed that out of 42 patient children, 19 (45.2%) gave positive detection of AFB1 in the serum among all age groups patients with a mean of 0.88 ng/ml and a range of (0.12-3.04) ng/ml. This was compared with the cont
... Show MoreCystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (
Objective: The purpose of this study was to determine the association between caries related microorganisms in children’s saliva, such as Streptococcus mutans and lactobacilli, and their demographic factors. Methods: This study involved a sample of 135, both sexes with an age range between 3 and 10 years. Unstimulated saliva was obtained and diluted in normal saline. Saliva was then placed in selective media. Salivaris agar was used for mutans streptococci while Rogosa agar for lactobacilli. After incubation, Streptococcus mutans counting of CFU (colony forming units) with morphology characterization and numbers of CFU per milliliter of saliva for lactobacilli. Demographic factors information was collected using a questionnaire.
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