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: Breast cancer is the most common cancer in Iraq and the United Kingdom. While the disease is frequently diagnosed among middleaged Iraqi women at advanced stages accounting for the second cause of cancer-related deaths, breast cancer often affects elderly British women yielding the highest survival of all registered malignancies in the UK. Objective: To compare the clinical and pathological profiles of breast cancer among Iraqi and British women; correlating age at diagnosis with the tumor characteristics, receptor-defined biomarkers and phenotype patterns. Methods: This comparative retrospective study included the clinical and pathological characteristics of (1,940) consecutive female patients who were diagnosed with invasive b
... Show MoreAbortion is categorized as the termination of conception caused by the failure or removal of the embryo from the uterus before the conclusion of pregnancy. Microorganisms and genetic factors are two of the many factors associated with abortion. Cytomegalovirus is a widespread congenital virus infection pathogen that affects a wide variety of people. The prothrombin gene is one of the essential causes that trigger blood clotting and the function of abortion women, therefore the aim of the study is to detect and associate Cytomegalovirus and prothrombin gene mutation (Gene ID: 14061 in NCBI) with abortion through genetic and immunological methods. Five ml of whole blood was collected from an intravenous puncture and divided into two tubes,
... Show MoreOne-hundred and twenty Iraqi women (60 single women and 60 married women) with age ranges from (17-49) years have been involved in this study to estimate the levels of anti-mullerian hormone (AMH) and follicle stimulating hormone (FSH) as markers of ovarian aging. The descriptive data [age, body mass index (BMI), age at menarche, duration of menarche] have been recorded. Blood samples were collected from the studied women to determine the levels of AMH and FSH. The results revealed non-significant (p>0.05) differences in levels of AMH and FSH between single women and married women. A significant negative correlation was observed between AMH levels and age in single women (r=-0.519, p<0.05) and married women (r=-0.433, p<0.05). A no
... Show MoreBackground: It had been found that passive smoking may have the same harmful effect as tobacco cigarettes smoking. Aims: This study was conducted to determine the effect of passive smoking on salivary glutathione peroxidase and selenium in relation to dental caries severity. Settings and Design: The sample consisted of 120 children aged 5 years old, classified into four groups according to the number of cigarettes smoked by their fathers daily: Passive smoking children of 5-10 cigarettes, those of 10–15 cigarettes daily, those of 15–20 cigarettes daily and non-passive smoking children of no smokers indoor (the control group). The sample was further classified according to dental caries severity into three groups: mild (DMFS values <4
... Show MoreBackground: Investigating dental health knowledge among children is important. Knowing what behaviors are right in relation to dental health does not guarantee that children will practice those behaviors. However, lack of knowledge and misconceptions about dental health may lead to behaviors that are harmful to teeth and gum. Baseline data on knowledge levels are required to determine which particular areas of dental health education are in need of improvement for high-risk children living in different geographical areas. This research was conducted to study the oral health status, dental knowledge and behavior in relation to two different cities, among children in Baghdad and Thamar (republic of Yemen) governorate. Materia
... Show MoreThe study aims to measure the level of academic stress in the e-learning environment in three areas, students and their dealing with classmates, dealing with the professor and technical skills, and the nature and content of the curriculum among graduate students in the College of Education at King Khalid University during COVID-19 pandemic. This study was descriptive in nature (survey, comparative). The sample consisted of (512) male and female graduate students in the master's and doctoral programs. The Academic Stress Scale in the E-learning Environment designed by Amer (2021) was used. The results indicated a high level of academic stress among graduate students in the e-learning environment. The study also found that there were stati
... Show MoreManual probing and periodontal charting are the gold standard for periodontal diagnosis that have been used in practice over a century. These methods are affordable and reliable but they are associated with some drawbacks that cannot be avoided. Among these issues is their reliance on operator’s skills, time-consuming and tedious procedure, lack sensitivity especially in cases of early bone loss, and causing discomfort to the patient. Availability of a wide range of biomarkers in the oral biofluids, dental biofilm, and tissues that potentially reflect the periodontal health and disease accurately encouraged their use as predictive/diagnostic/monitoring tools. Analysing biomarkers during care-giving to the patient using chairside kits i
... Show MoreThe alteration in the hydrological regime in Iraq and the anthropogenic increasing effect on water quality of a lotic ecosystems needs to continuous monitoring. This work is done to assess the water quality of Tigris River within Baghdad City. Five sites were selected along the river and ten physicochemical parameters and Overall Index of Pollution (OIP) were applied to assess the water quality for the period between November 2020 and May 2021, the studied period were divided into dry and wet seasons. These parameters were water temperature, pH, dissolved oxygen (DO), biological oxygen demand (BOD), total hardness, alkalinity, turbidity, total phosphorus, total nitrogen, electrical co
Our study comes up to clarify the role of television in spreading the culture of violence with a child. This study represents one of the important studies that have tried to highlight the impact of these programmes, particularly cartoons, on the child's behaviors, actions and acquired habits.Violence considers a common phenomenon among the people, as the role of the media, particularly TV has a vital role due to its properties, characteristics and its significant impact on different segments and groups in society and in children particularly through exposure to programmes of films.The results of the study have been affected by the rising proportion of females to males, and that the contribution of real life has a big role in the child ac
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