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.
The pure ZnS and ZnS-Gr nanocomposite have been prepared
successfully by a novel method using chemical co-precipitation. Also
conductive polymer PPy nanotubes and ZnS-PPy nanocomposite
have been synthesized successfully by chemical route. The effect of
graphene on the characterization of ZnS has been investigated. X-ray
diffraction (XRD) study confirmed the formation of cubic and
hexagonal structure of ZnS-Gr. Dc-conductivity proves that ZnS and
ZnS-Gr have semiconductor behavior. The SEM proved that
formation of PPy nanotubes and the Gr nanosheet. The sensing
properties of ZnS-PPy/ZnS-Gr for NO2 gas was investigated as a
function of operating temperature and time under optimal condition.
The sensitivity,
the study including isolation and identification of candida spp causing UTIs from patintes coming to al-yarmouk hospital
DC planar sputtering system is characterized by varying discharge potential of (250-2000 volt) and Argon gas pressures of (3.5×10-2 – 1.5) mbar. The breakdown voltage for silver electrode was studied with a uniform electric field at different discharge distances, as well as plasma parameters. The breakdown voltage is a product of the Argon gas pressure inside the chamber and gab distance between the electrodes, represent as Paschen curve. The Current-voltage characteristics curves indicate that the electrical discharge plasma is working in the abnormal glow region. Plasma parameters were found from the current-voltage characteristics of a single probe positioned at the inter-cathode space. Typical values of the electron temperature an
... Show MoreThe analysis of survival and reliability considered of topics and methods of vital statistics at the present time because of their importance in the various demographical, medical, industrial and engineering fields. This research focused generate random data for samples from the probability distribution Generalized Gamma: GG, known as: "Inverse Transformation" Method: ITM, which includes the distribution cycle integration function incomplete Gamma integration making it more difficult classical estimation so will be the need to illustration to the method of numerical approximation and then appreciation of the function of survival function. It was estimated survival function by simulation the way "Monte Carlo". The Entropy method used for the
... Show MoreAbstract
Lightweight materials is used in the sheet metal hydroforming process, because it can be adapted to the manufacturing of complex structural components into a single body with high structural stiffness. Sheet hydroforming has been successfully developed in industry such as in the manufacturing of the components of automotive.The aim of this study is to simulate the experimental results ( such as the amount of pressure required to hydroforming process, stresses, and strains distribution) with results of finite element analyses (FEA) (ANSYS 11) for aluminum alloy (AA5652) sheets with thickness (1.2mm) before heat treatm
... Show MoreThis paper deals with the problem of the mechanics of the operation of cinematography in the development of museum exhibition halls. In the first chapter, the researcher dealt with the problem and presented it to reach the goals and purpose of the research, which was represented in using and developing the methods and mechanisms of the presentation to keep pace with what is happening in the world of technology and access to the presented model to new formula and vision declares aesthetical and cognitive measure, thus the search constitutes an importance in absorbing Scenography dimensions in the theater and moved to the idea of the museum and the development of the display models and using them in drawing and representation of perception
... Show MoreAn analytical approach based on field data was used to determine the strength capacity of large diameter bored type piles. Also the deformations and settlements were evaluated for both vertical and lateral loadings. The analytical predictions are compared to field data obtained from a proto-type test pile used at Tharthar –Tigris canal Bridge. They were found to be with acceptable agreement of 12% deviation.
Following ASTM standards D1143M-07e1,2010, a test schedule of five loading cycles were proposed for vertical loads and series of cyclic loads to simulate horizontal loading .The load test results and analytical data of 1.95
... Show MoreA roundabout is a highway engineering concept meant to calm traffic, increase safety, reduce stop-and-go travel, reduce accidents and congestion, and decrease traffic delays. It is circular and facilitates one-way traffic flow around a central point. The first part of this study evaluated the principles and methods used to compare the capacity methods of roundabouts with different traffic conditions and geometric configurations. These methods include gap acceptance, empirical, and simulation software methods. Previous studies mentioned in this research used various methods and other new models developed by several researchers. However, this paper's main aim is to compare different roundabout capacity models for acceptabl
... Show MoreTo ascertain the stability or instability of time series, three versions of the model proposed by Dickie-Voller were used in this paper. The aim of this study is to explain the extent of the impact of some economic variables such as the supply of money, gross domestic product, national income, after reaching the stability of these variables. The results show that the variable money supply, the GDP variable, and the exchange rate variable were all stable at the level of the first difference in the time series. This means that the series is an integrated first-class series. Hence, the gross fixed capital formation variable, the variable national income, and the variable interest rate
... Show MoreObjective: The aim of the study to evaluate the nursing care management for diabetes mellitus patient
with total hip replacement after fractured hip.
Methodology: A field study carried out on patients with diabetes mellitus and have total hip
replacement after fractured hip in orthopedic ward at the hospital of surgical specialization (malefemale)during
January 2002 to January 2003.Physical and psychological nursing
assessment
immediately after the surgery was done for the both subjects (control and experimental) and then a
scientific management with daily nursing care were provided to the experimental subject with daily
nursing care to the patient condition by using a scientific and practical methods and leave th