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.
Mental disorders (MDs) are a common problem in Primary Health Care Centers (PHCCs). Many people with serious MDs are challenged by symptoms and disabilities that result from the disease and by stereotypes and prejudice due to misconceptions about mental illness. This study aims at evaluating the knowledge, and attitude toward mental health concepts and services and causes of the reluctance to seek those services among people attending PHCCs. A descriptive cross-sectional study was conducted. The random sampling technique was used to include (10) of Directorates of Health (DoHs) coverage north, middle, and south of Iraq. The study was executed in (50) selected PHCs, (5) PHCCs in each DoH involved randomly selected (30) people attending th
... Show MoreProblem Statement: Despite the critical role of arm movement in freestyle swimming, many learners— specially female students at Baghdad University's College of Physical Education and Sport Sciences— face difficulties executing the pushing phase of the stroke correctly. This phase essential for generating propulsion and maintaining body coordination in water. Traditional teaching methods lack immediate feedback on the quality and force of arm movements, impeding effective motor learning and coordination. Approach: the researchers developed a custom-made device designed to measure the pressure force exerted by the palms during freestyle swimming. The device features pressure sensors attached both hands, a processor that analyzes the colle
... Show MoreThe present study aims to explore the effectiveness of a proposed study unit based on the funds of knowledge theory in developing the attitudes towards cultural identity and the proposed study unit. In order to achieve the goal of the study, the two researchers followed the quasi-experimental approach, where the study sample consisted of (28) female students of the fifth-grade at Al-Jeelah Basic Education School, Al-Dakhiliyah Governorate in the Sultanate of Oman. The data were collected by two scales: the first is a scale of attitudes towards cultural identity consisting of (26) items. The second was a scale of attitudes towards the proposed study unit, which consisted of (24) items. The results of the study revealed that the effect of
... Show MoreTheatrical performances began with the Greeks when the theatrical scenes and skeletal figures were encoded, where the large wall of the Alskina, which contains three doors, the middle of them with a high height, and the two sides took the natural size, where the middle door indicated a symbolism of the god or demigods, as we find the condensation of the symbol in the architecture of the theater, and the symbol was taken In the theatrical scene, the development semantically and aesthetically, and interpreting and interpreting the current day, where the laser light formed the symbolism of the contemporary virtual scene, and in order to identify the aesthetics of the symbol in the theatrical scene, the current research was evaluated into fo
... Show MoreThe research is aimed at dynamics the dynamics of the artistic form within the theater and the dynamics of this movement in the development of the form and the multiplicity of meaning. This research came to address a problem of great importance in the creation of the image and the form of theatrical presentation. The evolution and transformation within the display system requires a dynamic structure that enables the form of growth and growth. The aim of the research was to identify the dynamics of form in the Iraqi theater. The researcher then identified two terms: form and motor.
In the theoretical framework, it was divided into two sections: the first (the dynamics of the artistic form) and the second (the dynamics of the act of dir
A mathematical method with a new algorithm with the aid of Matlab language is proposed to compute the linear equivalence (or the recursion length) of the pseudo-random key-stream periodic sequences using Fourier transform. The proposed method enables the computation of the linear equivalence to determine the degree of the complexity of any binary or real periodic sequences produced from linear or nonlinear key-stream generators. The procedure can be used with comparatively greater computational ease and efficiency. The results of this algorithm are compared with Berlekamp-Massey (BM) method and good results are obtained where the results of the Fourier transform are more accurate than those of (BM) method for computing the linear equivalenc
... Show MoreTo investigate the role of IL-6 and IL-8 in the immune-regulatory mechanisms involved in the recurrent spontaneous abortion of the first trimester of pregnancy. Serum level of IL-6 and IL-8 were determined in 25 women of age (20-35) years who had a spontaneous abortion of unknown aetiology during the first trimester of pregnancy .They were compared with the corresponding levels of 20 pregnant and non-pregnant women as control groups .cytokine levels were measured by (ELISA) technique .The women with spontaneous abortion had highly significant (P < 0.01) increased serum level of IL-8 and highly significant (P < 0.01 ) decreased level of IL-6 compared to those with normal pregnant and non-pregnant women. The results of this study ma
... Show MoreABSTRACT Background: Polycystic ovarian syndrome (PCOS) is one of the most important reproductive and endocrine disorders in women at reproductive age. It's associated with metabolic disorder, obesity, insulin resistance and oxidative stress chronic periodontitis and PCOS both of them associated with low chronic grade of inflammation. The prevalence of periodontal disease seems to be higher in women with PCOS. Superoxide dismutase enzyme (SOD) is an important circulating marker and protecting enzyme helping the body tissues to get rid of reactive oxygen species (ROS) that damage the tissue. Aim of the study: The aim of this study was to measure and compare the levels of (SOD) among group of chronic periodontitis patients with PCOS, group
... Show MoreDiabetes mellitus, with adverse neonatal events are challenging issues to all obstetricians and pediatricians, where uric acid could play a vital role. We aimed to assess the relationship and prognostic benefits of serum uric acid measured at about 20 weeks’ gestation in normotensive pregnancy, with subsequent maternal diabetes, and neonatal complications. All singleton normotensive pregnant women with normal blood glucose, serum creatinine, and weight before pregnancy, whom attended Medical City Hospital, Department of Obstetrics and Gynecology in Baghdad, were involved and regarded as the case group, on the condition that their serum uric acid measured at 20 weeks’ gestation > 3 mg/dl, but if ≤ 3 mg/dl, they would be regi
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