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: Nutritional status during childhood is very important for individual development and growth. Nutrition has local and systemic effect on the oral health by affecting dental health and salivary composition. This study was aimed to determine effect of iron, sodium and potassium ions in saliva on the nutritional status and to determine the effect of nutritional status on caries severity among preschool children. Material and Methods: The sample consists of 90 children aged 4 and 5 years of both genders, selected from 6 kindergartens in Al-Resafa aspect of Baghdad province. Children classified according to their nutritional status into three groups (normalweight, underweight and overweight). Nutritional status was determined by usi
... Show MoreObjectives: With the advent of ongoing novel modalities toward the treatment of human epidermal growth factor receptor 2 (HER2)/NEU - positive malignancies, the serious side effects of chemoradiotherapy have been minimized. Hence, this study was conducted to identify the patterns of immunohistochemical expression of the promising therapeutic target (HER2/NEU) among Iraqi patients with medulloblastoma in an attempt to provide basic histological information’s that would help in future clinical researches.Materials and Methods: In this retrospective study, 42 formalin - fixed paraffin - embedded tissue blocks represent cases of surgically removed medulloblastomas were retrieved from the archived materials in a specialized surgical ho
... Show MoreThis study aims to identify the forgiveness level among gifted students and its relation to the self-awareness. The study sample consisted of (207) students were randomly chosen, they are integrated in secondary schools in Abha / Saudi Arabia. The correlative, analytical descriptive method was adopted. Two scales were adopted by the researcher: The forgiveness scale prepared by Rye et al (2001) which translated to Arabic by Al-Mahasneh (2017) and the self-awareness scale which prepared by Al-Ghezwani (2017). The study results indicated the following: the forgiveness level among the talented students was high, the self-awareness level among talented students was high, and there is a positive statistically significant relationship
... Show More<span lang="EN-US">We are living in the 21<sup>st</sup> century, an era of acquiring necessity in one click. As we, all know that technology is continuously reviving to stay ahead of advancements taking place in this world of making things easier for mankind. Technology has been putting his part in introducing different projects as we have used the field programmable gate arrays (FPGAs) development board of low cost and programmable logic done by the new evolvable cyclone software is optimized for specific energy based on Altera Cyclone II (EP2C5T144) through which we can control the speed of any electronic device or any Motor Control IP product targeted for the fan and pump. Altera Cyclone FPGAs’ is a board thro
... Show MoreThis research talked about the importance of adjacent structures for informing the stage show for children. The researcher began from the importance of adjacent structures for informing the show to introduce the various and different proofs, on the level of creativity and artistic shape of the accomplishment over it’s shifts that contribute to formation the show and it's intellectual, artistic, technical and cognitive Marks that contribute in dynamism the interactive show and contact the idea that connect with the design and directional vision for the beauty and cognitive. Lead to the eager operation in attention, sensitive and attractive the child. The research consist of four chapters: The first chapter include methodological framewo
... Show MoreBackground: Hypothyroidism is the most prevalent thyroid disorders worldwide. Hypothyroidism manifestations are wide spectrum, affecting various systems in human body including the nervous system. Hypothyroidism can cause neuropsychiatric symptoms such as anxiety, depression and diminishing in attention, memory and executive function. Aim: to investigate the level of anxiety and depression in patients with hypothyroidism receiving levothyroxine treatment. Method: a cross-sectional study was conducted at Baghdad Center for Nuclear Medicine and Radiation Therapy from March to June 2022. The study population included patients of both genders, aged 18-65 years, diagnosed with hypothyroidism, were receiving levothyroxine treatment and
... Show More230 stool samples were collected from 2 state homes for (males and females) to investigate
the infection of different intestinal parasites (pathogenic and non-pathogenic).
The infection rate was higher among males 15.7% than females 6%, these rates were
increased when concentration method was employed up to 54.8% for males and 8.7% for
females significantly.
Most infected orphans were found to harbor single parasite followed by double, triple
parasites.
The highest rate of infection was found among young age group (1-5) years old, while
the older age groups got lowest rates.
Of helminthes, the commonest parasite was Hymenolepis nana 5.7% and of protozoa, the
commonest intestinal parasite was Giardia lamblia
The childhood is an important stage in building the character of the individual and where children acquire the most important experiences . providing proper growth requirements of the things follows assist them in achieving a stable and together Childhood is the violence of indicators that can determine whether personal or illness social .the social circumstances experienced community Iraqi and continues through crises successive wars and explosions and the displacement and that these events may lead to changes in the social behavior of individuals and may contribute to the spread of violence in Iraqi society and observed various forms in (home, school, street, and work), so it was natural that a child the first affected by these waves o
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