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.
This paper investigate a sensorless speed control of a separately excited dc motor fed from a buck type dc-dc converter. The control system is designed in digital technique by using a two dimension look-up table. The performance of the drive system was evaluated by digital simulation using Simulink toolbox of Matlab.
This review sums up the developments in the biological activity of tetrazole active derivatives in recent days. Some of the deliberated derivatives of tetrazole are at present actively scientifically studied; some of them have biological activity that enables them to be studied further in the future as a drug for various biological activities. This review seeks to offer a comprehensive analysis of the efficacy and clinical advantage of biological activity for tetrazole derivatives.
The skull is one of the largest bones in the body. It is classified into flat bones that maintain the important organic structures; which are the brain, eyes, and tongue. The skull is a strong support for preserving these organs but they are various according to the type of animals and the environments in which they live and the nature of their nutrition. There are many differences among living organisms in terms of the bones in the skull, their difference or disappearance and their length in the shape of the head. The samples were taken from the scientific storage in the Iraq Natural History Research Center and Museum; Cape hare Lepus capensis (Linnaeus, 1758) and Red fox Vulpes vulpes (Linnaeus, 1758) and the study was conducted o
... Show MoreEnhancing fatigue resistance in asphalt binders and mixtures is crucial for prolonging pavement lifespan and improving road performance. Recent advancements in nanotechnology have introduced various nanomaterials such as alumina (NA), carbon nanotubes (CNTs), and silica (NS) as potential asphalt modifiers. These materials possess unique properties that address challenges related to asphalt fatigue. However, their effectiveness depends on proper dispersion and mixing techniques. This review examines the mixing methods used for each nanomaterial to ensure uniform distribution within the asphalt matrix and maximize performance benefits. Recent research findings are synthesized to elucidate how these nanomaterials and their mixing proce
... Show MoreBackground: the primary objective for many researches carried out in dental implantology was to reduce the period needed for functional implant loading, simvastatin (cholesterol lowering medication) had many pleiotropic effects, one of which was increasing bone density around titanium implants (1) and subsequently establishing faster osseointegrated dental implants (2,3). This study aims to reduce the period of time needed to establish secondary stability of dental implant measured in ISQ (Implant Stability Quotient) by investigating the effect of orally administered simvastatin on bone. Materials and methods: simvastatin tablets (40mg/day for three months) were administered orally for 11 healthy women aged (40-51) years old who received 1
... Show MoreThe new multidentate Schiff-base (E)-6,6′-((1E,1′E)-(ethane-1,2-diylbis(azan-1-yl-1-ylidene))bis(methan-1-yl-ylidene))bis(4-methyl-2-((E)(pyridine-2-ylmethylimino)methyl)phenol) H2L and its polymeric binuclear metal complexes with Cr(III), Mn(II), Fe(II), Co(II), Ni(II), Cu(II), Zn(II), Cd(II) and Hg(II) are reported. The reaction of 2,6-diformyl-4-methyl-phenol with ethylenediamine in mole ratios of 2:1 gave the precursor 3,3′-(1E,1′E)-(ethane-1,2-diylbis(azan-1-yl-1ylidene))bis(methan-1-yl-1-ylidene)bis(2-hydroxy-5-methylbenzaldehyde) W. Condensation of the precursor with 2-(amino-methyl)pyridine in mole ratios of 1:2 gave the new N6O2 multidentate Schiff-base ligand H2L. Upon complex formation, the ligand behaves as a dibasic oct
... Show MoreSince the time it emerged, stylistics, as a field of knowledge which combines both linguistics and literature, acquired a special status in the linguistic arena. Its significance in complementing the meaning delivered by linguistic means has been proven and acknowledged through numerous stylistic analytic attempts of different literary works and in different languages. The question put forward in this paper is whether or not the stylistic analysis can work as effectively on translated texts as it does on the original ones without having the results reached by the analysis distorting the meaning of the original text. An attempt to investigate this question is made herein by conducting a lexical stylistic analysi
... Show MoreAcute appendicitis is one of the commonest causes of acute abdomen. There is a wide discussion and controversy on the surgical and nonsurgical treatment of acute uncomplicated appendicitis. The aim of this study was to evaluate the efficacy and outcomes of the conservative management of selected cases of acute appendicitis with an antibiotic first plan.
This was a single hospital-based prospective study with a durat
This research is an attempt to explore a social and pragmatic phenomenon of lamentation in elegies of Gray and AL-Khansaa' who represent two different cultures. It illustrates the intended meaning of lamentation in English and Arabic and finds how the two languages express this purpose of poetry by analysing it socio-pragmatically adopting Searle's models (1969),and its modifications. Lamentation is considered as a mournful poem lamenting the death of whole humanity as Gray's elegy and of an individual as AL-Khansaa's elegy. So, Gray portrays a universal picture concerning his lamentation, while AL-Khansaa' portrays an individual and subjective picture regarding her lamentation. As branches of linguistics, sociolinguistics de
... Show MoreThe present study introduces description of new species of leafhopper Cicadella latreilla nov. External morphological characters particularly female genitalia were discussed and illustrated, shape of male abdominal apodeme, chaetotaxy of genital style and genital plate of male genitalia, shape of Aedeagus and connective . The external morphological characters were: spotting patterns of vertex, face, pronotum of prothorax, and metothorax, and of lower and upper valves of ovipositors,shape of female seventh abdominasternum.