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 inflammator

    The complexes of para-chloranil as electron acceptor and the anions of amide, azide and cyanide as electron donors in aqueous ethanol as a solvent, were studied spectrophotometrically .     The reactions lead to the formation of charge transfer complexes. The CT complexes were stable in excess acceptor concentration, while they were underwent another transformations in excess donors concentrations.   Stoichiometries were determined, the molecular ratio was determined by continuous variation method (Job method) and is was  1:1 (donor: acceptor).   The maximum wavelength (λ max.), the energy (hÏ…CT), ionization potential (Ip) and activation energy (w ) of excited state f

In this work we prepared some schiff bases by condensation urea and benzaldehyde or its derevative ( bromo benzaldehyde or hydroxy benzaldehyde ) as ( 1 : 1 ) mole ( urea : benzaldehyde or its substitution ) to prepare compounds ( A1 , B1 , C1 , D1 , E1 , F1 , G1 ) and ( 1 : 2 ) mole ( urea : benzaldehyde or its substitution ) to prepare compounds ( A2 , B2 , C2 , D2 , E1 , F2 , G2 ) . The prepared compounds identified spectroscopic by infrared spectroscopy FT-IR and Thin layer chromotography T.L.C . The force constant calculated from the wave number for the carbonyl stretching from FT-IR chart and by using the following equation K = 4?2C2?'2? The change in double bond order for carbonyl deteremined in according with some past re

The theatre costume with the rest of the theatre show elements constitute a system of the meaning relations that produce a visual image that helps the recipient to decipher the theatre scene, let alone the manifestation of time in its levels (past, present, future) through the design construction of the theatre elements among which is the theatre costume. In order to know the way of manifesting time through the formulation of the theatre costumes, the research question has been put as follows:  how to manifest time through the design construction for the theatre costumes unit, from which the research objective is derived as follows: Revealing the possibility of the designing unit of the costumes in manifesting the levels of time wit

The splicing design of the existing road and the new road in the expansion project is an important part of the design work. Based on the analysis of the characteristics and the load effect of pavement structure on splicing, this paper points out that tensile crack or shear failure may occur at the splicing under the repeated action of the traffic load on the new/old pavement. According to the current structure design code of asphalt pavement in China, it is proposed that the horizontal tensile stress at the bottom of the splicing layer and the vertical shear stress at other layers of the splicing line should be controlled by adjusting the position and size of the excavated steps in addition to the conventional design ind