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.
KE Sharquie, AA Noaimi, AF Hameed, Journal of Cosmetics, Dermatological Sciences and Applications, 2013 - Cited by 11
Background: Oral squamous cell carcinoma represents the vast majority of oral cancer it is a common malignant tumor with an increasing incidence. Around the world, the 5 year mortality rate of oral cancer is about 50%. Thus novel biomarkers for early detection oral squamous cell carcinoma are needed. The level of three salivary microRNAs namely hsa-miR-200a, hsa-miR-125a and hsa- miR-93 were measured in saliva of patients with oral squamous cell carcinoma and compared their levels in saliva of healthy control subjects to determine their potential as oral cancer biomarker. Materials and methods: The level of these three microRNAs was measured by using revers transcription, preamplification and quantitative PCR. Results: Only miR-200a presen
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The current research aims to examine the effectiveness of a training program for children with autism and their mothers based on the Picture Exchange Communication System to confront some basic disorders in a sample of children with autism. The study sample was (16) children with autism and their mothers in the different centers in Taif city and Tabuk city. The researcher used the quasi-experimental approach, in which two groups were employed: an experimental group and a control group. Children aged ranged from (6-9) years old. In addition, it was used the following tools: a list of estimation of basic disorders for a child with autism between (6-9) years, and a training program for children with autism
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... Show MoreBack ground: Dental caries and periodontal disease followed by enamel defect were the most common and widely spread diseases affecting children. Aim of this study is the assessment of the occurrence and severity of dental caries, dental plaque, gingivitis and enamel anomalies among 4-5 years old children in Karbala city-Iraq. Materials and methods: A sample of 658 children (350 males, 308 females) aged four and five years old was selected randomly from the fourteenth kindergartens in Karbala city. Diagnosis and recording of dental caries and enamel anomalies were followed the criteria of WHO 1987, WHO1997 respectively. Dental plaque was assessed using plaque index of Silness and Loe,1964. Gingival health condition was assessed using gingiv
... Show MoreThe essay investigates the rise and development of the prose poem form in Iraqi poetry in the period during and after the 1980s Iraq–Iran war. The essay follows the legacy of Western experiments with form following the First World War and their impact on the development of form in Iraqi poetry culminating in the prose poem. The dominance of this form on poetic development in this period has a close relationship with the experience of warfare and the ensuing of the cultural changes in Iraq after 1980. Poets of the 1980s war used poetic form as a means of dissent. The prose poem became for them an inherently subversive form that reflected their disaffection with the political, cultural, and literary conflicts of the time. The prose poem in
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An automatic text summarization system mimics how humans summarize by picking the most significant sentences in a source text. However, the complexities of the Arabic language have become challenging to obtain information quickly and effectively. The main disadvantage of the traditional approaches is that they are strictly constrained (especially for the Arabic language) by the accuracy of sentence feature functions, weighting schemes, and similarity calculations. On the other hand, the meta-heuristic search approaches have a feature tha
... Show MoreBackground: Piezosurgery improved the split approach by making it safer, easier, and less prone to complications when treating extremely atrophic crests. Densah drills, with their unique design, expand the ridge by densifying bone in a reverse, non-cutting mode. Objective: To assess the effectiveness of sagittal piezosurgery, which involves cutting bone to the full implant depth and then expanding it using osseodensification drills. We use this technique to expand narrow alveolar bones and simultaneously place dental implants in the maxillary and mandibular arches. Methods: Fourteen patients received 31 dental implants. The maxillary arch received 19, and the mandible received 12 dental implants. This study will include patients who
... Show MoreA method has been demonstrated to synthesise effective zeolite membranes from existing crystals without a hydrothermal synthesis step.