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.
Many of the dynamic processes in different sciences are described by models of differential equations. These models explain the change in the behavior of the studied process over time by linking the behavior of the process under study with its derivatives. These models often contain constant and time-varying parameters that vary according to the nature of the process under study in this We will estimate the constant and time-varying parameters in a sequential method in several stages. In the first stage, the state variables and their derivatives are estimated in the method of penalized splines(p- splines) . In the second stage we use pseudo lest square to estimate constant parameters, For the third stage, the rem
... Show MoreThe complexity and partially defined nature of jet grouting make it hard to predict the performance of grouted piles. So the trials of cement injection at a location with similar soil properties as the erecting site are necessary to assess the performance of the grouted piles. Nevertheless, instead of executing trial-injected piles at the pilot site, which wastes money, time, and effort, the laboratory cement injection devices are essential alternatives for evaluating soil injection ability. This study assesses the performance of a low-pressure laboratory grouting device by improving loose sandy soil injected using binders formed of Silica Fume (SF) as a chemical admixture (10% of Ordinary Portland Cement OPC mass) to di
... Show MoreError control schemes became a necessity in network-on-chip (NoC) to improve reliability as the on-chip interconnect errors increase with the continuous shrinking of geometry. Accordingly, many researchers are trying to present multi-bit error correction coding schemes that perform a high error correction capability with the simplest design possible to minimize area and power consumption. A recent work, Multi-bit Error Correcting Coding with Reduced Link Bandwidth (MECCRLB), showed a huge reduction in area and power consumption compared to a well-known scheme, namely, Hamming product code (HPC) with Type-II HARQ. Moreover, the authors showed that the proposed scheme can correct 11 random errors which is considered a high
... Show MoreVillages in most rural areas of the developing world, including Iraq, suffer from a deterioration in the urban structure in its various aspects, both in the lack of internal planning in terms of residential unit design which is not commensurate with the sustainable health life, in addition to the lack of infrastructure and community services networks As well as road networks linking them to neighboring urban centers, which was accompanied by the emergence of other problems, including the desire of the population to migrate to neighboring cities and the deterioration of economic activities due to lack of activation of economic development plans (Rural villages suffer from a lack of interest in urban development within the regional spatial
... Show MoreMyriophyllum spicatum distribution in Al-Burgga marsh, Hor Al-Hammar was described in relation to some of the physical-chemical properties for its habitat (water depth, light penetration, water temperature, water salinity, pH, dissolved oxygen, Ca+2, Mg+2, reactive NO2=, reactive NO3-1, and reactive PO4-3) during 2011, seasonally. CANOCO ordination program (CCA) was used to analyse the data. Its vegetation cover percentage was with its peak at summer, its value was 90 %, while the lowest value was 20 % in winter. Statistically, Positive relationships for WT, sal., Ca+2, Mg+2, reactive NO2=, reactive NO3-1, and reactive PO4-3 with the vegetation cover percentage were observed. While, negative relationships for WD, pH, and DO with the ve
... Show MoreAn experimental and numerical investigation of the effect of using two types of nanofluids with suspending of (Al2O3 and CuO) nanoparticles in deionized water with a volume fraction of (0.1% vol.), in addition to use three types of fin plate configurations of (smooth, perforated, and dimple plate) to study the heat transfer enhancement characteristics of commercial fin plate heat sink for cooling computer processing unit. All experimental tests under simulated conditions by using heat flux heater element with input power range of (5, 16, 35, 70, and 100 W). The experimental parameters calculated are such as water and nanofluid as coolant with Reynolds number of (7000, 8000, 9400 and 11300); the air
... Show MoreThis research presents a response surface methodology (RSM) with I‐optimal method of DESIGN EXPERT (version 13 Stat‐Ease) for optimization and analysis of the adsorption process of the cyanide from aqueous solution by activated carbon (AC) and composite activated carbon (CuO/AC) produced by pyro carbonic acid microwave using potato peel waste as raw material. Pyrophosphate 60% (wt) was used for impregnation with an impregnation ratio 3:1, impregnation time of 4 h at 25°C, radiant power of 700 W, and activation time of 20 min. Batch experiments were conducted to determine the removal efficiency of cyanide from aqueous solution to evaluate the influences of various experimental parameters su
Abstract: Background: High percentage of diabetes patients complain from post extraction hemorrhage. Many types of hemostatic materials are used to stop bleeding after teeth extraction: diode lasers are good hemostatic agents owing to their highly absorption by hemoglobin therefore they are used in soft tissue procedures with relatively no effects on dental hard tissues due to their poorly absorption by water and hydroxyapatite. Objectives: The aim of this study is to evaluate the efficiency of diode laser to assist the clot formation after tooth extraction for type II diabetes patients with minimum temperature elevation to prevent periodontal destruction. Materials and methods: From 12 type II diabetes patients (7 males and 5 females wi
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