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 harmonic oscillator (HO) and Gaussian (GS) wave functions within the binary cluster model (BCM) have been employ to investigate the ground state neutron, proton and matter densities as well as the elastic form factors of two- neutron 6He and 16C halo nuclei. The long tail is a property that is clearly revealed in the density of the neutrons since it is found in halo orbits. The existence of a long tail in the neutron density distributions of 6He and 16C indicating that these nuclei have a neutron halo structure. Moreover, the matter rms radii and the reaction cross section (𝜎𝑅 ) of these nuclei have been calculated using the Glauber model.
For a mathematical model the local bifurcation like pitchfork, transcritical and saddle node occurrence condition is defined in this paper. With the existing of toxicity and harvesting in predator and prey it consist of stage-structured. Near the positive equilibrium point of mathematical model on the Hopf bifurcation with particular emphasis it established. Near the equilibrium point E0 the transcritical bifurcation occurs it is described with analysis. And it shown that at equilibrium points E1 and E2 happened the occurrence of saddle-node bifurcation. At each point the pitch fork bifurcation occurrence is not happened.
This research includes problems that facing the philosophy of education in the variables of knowledge and Informatics society (techno _ social).
The problematic research included three questions:
1- What are the concepts and characterization related to the problematic of relationship between the philosophy of education and informatics variables (techno - social).
2-What kind of problems facing speech philosophy of education in the variables information (techno - social)
3 - What are the perceptions of educational proposed to address problematic philosophy of education in the scope of human (human nature) and (values and morals), in addition the research may explain the co
... Show MoreThis contribution provides an atomistic understanding into the impact of W, Nb, and Mo co-substitution at Hf-site of cubic HfO2 lattice to produce Hf1−xTMxO2 system at x = 25%. The calculations have been performed under the framework of density functional theory supported by Habbured parameter (DFT+U). Structural analysis demonstrates that the recorded lattice constants is in good coherence with the previously published results. For the lattice parameters, contraction by 1.33% comparing with the host system has been reported. Furthermore, the doping effect of TM on the band gap leads to its reduction in the resulting Hf0.75TM0.25O2 configurations. The partial density of states (PDOS) indicate that hybridization through localized electroni
... Show MoreIn this research we present An idea of setting up same split plots experiments in many locations and many periods by Latin Square Design. This cases represents a modest contribution in area of design and analysis of experiments. we had written (theoretically) the general plans, the mathematical models for these experiments, and finding the derivations of EMS for each component (source) of sources of variation of the analysis of variance tables which uses for the statistical analysis for these expirements
The research included making a bibliography of the jurisprudential books available in the reference section of the central library at the University of Al-Mustansiriya. From this research, and I also saw that one of its objectives was to classify these books scientifically according to what was included in the Contemporary Islamic Fiqh Library of sections that were classified on its basis, according to what has settled in the custom of contemporary jurists, and according to the researcher’s view and his humble diligence, so the research was organized into an introduction and three topics. Each topic contained approximately five demands that included the sections of the contemporary jurisprudential lib
... Show MoreWhat distinguishes human rights issues is their importance to the international community and their importance to democratic political regimes, because they are the axis of any political regime that seeks to achieve a successful democratic path and a stable state. So, countries that are interested in human rights try to enshrine those rights and freedoms in their constitutions and reinforce their concepts in their laws and legislations. Not to mention its involvement in international conventions and treaties concerned with human rights and freedoms, and this is what the Sultanate of Oman has worked on and confirm in the provisions of its 1996 constitution and its amendments