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.
New metal ions complexes of tridentate ligand (1-((dicyclohexylamino) methyl)-3-(1,5-dimethyl-3-oxo-2-phenyl-2,3-dihydro-1H-pyrzol-4-ylimino) indolin-2-one) have been synthesized and characterized by chemical-physical analysis. The ligand acts as a tridentate for the complexation reaction with all metal ions. The new complexes, possessing the general formula [M(L)Cl]Cl where M=[Ni(II), Cu(II), Zn(II), Pd(II), Cd(II), Pt(IV) and Hg(II) ] ,show tetrahedral geometry. All complexes ,except Pd(II) complex which has a square planar geometry and Pt(IV) which show an octahedral geometry. The geometry of the prepared compounds has been proposed in another method theoretically by using one of the calculation molecular programs (Hype
... Show MoreThe litholog of Nahr Umr Formation was evaluated using the Acoustic Impedance (AI), Vp/Vs ratio cross plot colored by petrophysical properties (Vsh, PHIT, PHIE, and Sw) in Am-6-Am-10 wells. Bulk density is an important physical property that reflects matrix density and fluid density that exist in rocks pores. It is used as the main parameters to estimate physical characteristics (porosity, water saturation, shale volume, and others). AI was calculated using RHOB and VP logs. Shear velocity was calculated using Greenberg Castagna equations used for estimating the Vp/Vs ratio and the result Showed that the Nahr Umr Formation is composed of two main lithological units. The upper unit (depth 3540m -3672m) is composed of limestone (li
... Show MoreThat any industrial company that must think about marketing mechanisms and who are the beneficiaries and the pursuit of gain customer satisfaction with access to competitive advantages. Most industrialized our companies from a variety of problems experienced both in the field of production, marketing, or keep up with new developments or commitment to quality standards, which caused the reluctance of customers to buy local products for various reasons, and especially in light of unplanned economic policy and exposure to market to imported products flooding the market with various goods and services that do not can the domestic industry rival, which has competitive advantages and meet business requirements, but others arrived to stop or as
... Show MoreAloin extracted into alcohol-rich phase with high extraction efficiency,
meanwhile majority polysaccharides, proteins, mineral substances and other
impurities were extracted into salt-rich phase. Partitioning of AQs[Anthraquinones]
is dependent on hydrophobic interaction, hydrogen bond interaction, and salting-out
effect in Aqueous tow –phase system [ATPS]. Aloin was partially purified by using
1-propanol [NH4] 2SO4, the use of this solvent showed high efficiency 90.61%
compared with other solvent [2-propanol and ethanol]. The concentration of aloin
detected by HPLC technique, which reached to 91.84% as focus turns out that there
is compatibility between the sample and the standard in shape and retention time
In this research, the study effect of additive titanium dioxide powder (TiO2) as a lone composite ( Ep+TiO2) and a mixture of (TiO2) and silicon oxide (SiO2), ( Ep+ TiO2+SiO2)as a hybrid composite on the mechanical and physical properties for epoxy coating. Thescompsiteswere prepared by (Hand Lay- the molding) method. The samples were tested for compressive strength, surface hardness, modulus of elasticity, thermal conductivity and diffusion coefficient, from the results obtained showed improvement in mechanical properties after adding ceramic powders, as the alone composite (EP+ TiO2) had the highest compressive strength ( 53.738 ) ᴍPa, the hybrid composite ( EP+TiO2 +SiO2 ) had the
... Show MoreThe study area of Baghdad region and nearby areas lies within the central part of the Mesopotamia plain. It covers about 5700 Km2. The remote sensing techniques are used in order to produce possible Land Use – Land Cover (LULC) map for Baghdad region and nearby areas depending on Landsat TM satellite image 2007. The classification procedure which was developed by USGS used and followed with field checking in 2010. Land Use-land cover digital map is created depending on maximum likelihood classifications (ML) of TM image using ERDAS 9.2.The LULC raster image is converted to vector structure, using Arc GIS 9.3 Program in order to create a digital LULC map. This study showed it is possible to produce a digital map of LULC and it can be co
... Show MoreIn this paper, Nordhaus-Gaddum type relations on open support independence number of some derived graphs of path related graphs under addition and multiplication are studied.
A fast laser texturing technique has been utilized to produce micro/nano surface textures in Silicon by means of UV femtosecond laser. We have prepared good absorber surface for photovoltaic cells. The textured Silicon surface absorbs the incident light greater than the non-textured surface. The results show a photovoltaic current increase about 21.3% for photovoltaic cell with two-dimensional pattern as compared to the same cell without texturing.