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 present study aims to give some details about the normal anatomical and histological structure of the liver, pancreas and gall bladder in Cyprinus carpio Linnaeus, 1758 and Mesopotamichthys sharpeyi (Günther, 1874). Anatomical results revealed that the liver of C. carpio is a reddish-brown in color, located in the anterior part of abdominal cavity and dispersed between most of the intestines, which is divided into two lobes; while in M. sharpeyi the liver is light brown in color located in the anterior part of abdominal cavity and extends to the end of the intestinal tract with two lobs. The gallbladder situated in the right side of the liver in both species. Histological results in both species showed that the liver consists
... Show More<p><span>A Botnet is one of many attacks that can execute malicious tasks and develop continuously. Therefore, current research introduces a comparison framework, called BotDetectorFW, with classification and complexity improvements for the detection of Botnet attack using CICIDS2017 dataset. It is a free online dataset consist of several attacks with high-dimensions features. The process of feature selection is a significant step to obtain the least features by eliminating irrelated features and consequently reduces the detection time. This process implemented inside BotDetectorFW using two steps; data clustering and five distance measure formulas (cosine, dice, driver & kroeber, overlap, and pearson correlation
... Show Morebstract The aim of this work covers the synthesis and characterization of the new tertra dentate ligand (H4L) containing (N and O) as donor set atoms kind (N2O2) where: H4L=Bis-1,2 (2,4- dihydroxybenzylediene phylinediamine . The preparation of ligand contains reaction 2, 4 - Dihydroxy benzaldehyde and o-phenylene diamine . Schiff base was reacted with some metal ions in the presence of methanol to give the complexes in the general formula [M (H2L)] where: MII = Co, Ni, Cu, Zn, Cd. All compounds were characterized by spectroscopic methods I.R , U.V.-Vis, metal content and molar conductivity measurements, showed that the complexes are non-electrolyte. The proposed geometry for all of the proposed complexes was a tetrahedral while Ni complex
... Show MoreSix house-hold Abyssinian pumps distributed in different villages of Mansoura (Mans-I, Mans-II and Mans-III) and Talkha (Talk-I, Talk-II and Talk-III) cities, Egypt, have been selected for regular seasonal water quality assessment during 2017. Water samples have been collected within the mid-periods of four seasons Standard assessment tools were employed for the integrated water quality assessment including Water Quality Index (WQI) and ISO standard algal toxicity test. WQI displayed remarkable local and seasonal variations with excellent (≥ 90) and good (70 - 89) only recorded for water samples collected from Mans-I pump located in sparsely populated area and far 50 meters only from the eastern (Damietta) branch of Nile River. WQI of
... Show MoreThe purpose of this study is to investigate the histopathological response of dentinopulpal
response of human teeth to the Er: YAG laser cavity preparation in comparison with the conventional
class I cavity preparation. Thirty five sound human upper and lower first premolar teeth which were
needed to be extracted for orthodontic purposes were used in the study. Regarding to the method of
cavity preparation, the teeth were grouped into three groups; Group1; Control group which consists of
seven sound teeth without cavity preparation, Group2; Conventional cavity preparation group and group
3; Er: YAG laser cavity preparation group. Each of Group2 and3 consists of fourteen teeth that is
subdivided into: A. 7teeth that e
Resveratrol, (RES), a phytoalexin, is well-known for its anti-inflammatory and anti-oxidant properties. SEB, a superantigen, is known to trigger ALI and cause mortality. In the current study, we tested the effect of RES in a dual-dose model of SEB exposure that triggers ALI and causes 100% mortality in C3H/HeJ-mice. The data revealed RES attenuated SEB-induced ALI and prevented mortality. Forty eight hours post-SEB exposure, lung-infiltrating mononuclear cells were tested for microRNA expression profile to determine the epigenetic regulation by resveratrol. SEB-activated splenocytes were pre-treated with 50 μM of RES or vehicle for metabolic profile analysis by measuring oxygen consu
The Evaluation of the immune response in Golden Hamsters experimentally infected with Leishmania donovani was determined in this study, particularly, the cellular immune response. Follow up has maintained to determine the Delayed Type of Hypersensitivity using skin test both in infected and control lab animals. Chicken red blood cells were used as a parameter to evaluate the immune system; they are dull and have the ability of immunization. Two concentrations of chicken R.B.C were examined to determine which gives the higher titration in Hamsters and those were 1.5 X 109 cell/ml and 3 X 109 cell/ml , the second concentration gave the maximum titration where then used in this work. After sensitization with Chicken R.B.C for both in
... Show MoreThe ligand 4-amino-N-(5-methylisoxazole-3-yl)-benzene-sulfonamide(L1) (as a chelating ligand) was treated with Pd(II),Pt (IV) and Au(III) ions in alcoholic medium in order to prepare a series of new metal complexes. Mixed ligand complexes of this primary ligand were prepared in alcoholic medium in presence of the co-ligand 4,4'-dimethyl-2,2'-bipyridyl(L2) with Cu(II) ,Pd(II) and Au(III) ions. The complexes were characterized in solid state using flame atomic absorption, elemental analysis C.H.N.S, FT-IR, UV-Vis Spectroscopy, conductivity and magnetic susceptibility measurements. The nature of some complexes formed in ethanolic solution has been studied following the molar ratio method, also stability constant was studied and the complexes f
... Show MoreIn this work lactone (1) was prepared from the reaction of p-nitro phenyl hydrazine with ethylacetoacetate, which upon treatment with benzoyl chloride afforded the lactame (2). The reaction of (2) with 2-amino phenol produced a new Schiff base (L) in good yield. Complexes of V(IV), Zr(IV), Rh(III), Pd(II), Cd(II) and Hg(II) with the new Schiff base (L) have been prepared. The compounds (1, 2) were characterized by FT-IR and UV spectroscopy, as well as characterizing ligand (L) by the same techniques with elemental analysis (C.H.N) and (1H-NMR). The prepared complexes were identified and their structural geometries were suggested by using elemental analysis (C.H.N), flame atomic absorption technique, FT-IR and UV-Vis spectroscopy, in additio
... Show MoreIn this work, Schiff base ligands L1: N, N-bis (2-hydroxy-1-naphthaldehyde) hydrazine, L2: N, N-bis (salicylidene) hydrazine, and L3:N –salicylidene- hydrazine were synthesized by condensation reaction. The prepared ligands were reacted with specific divalent metal ions such as (Mn2+, Fe2+, Ni2+) to prepare their complexes. The ligands and complexes were characterized by C.H.N, FT-IR, UV-Vis, solubility, melting point and magnetic susceptibility measurements. The results show that the ligands of complexes (Mn2+, Fe2+) have octahedral geometry while the ligands of complexes (Ni2+) have tetrahedral geometry.