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 fact of having Journalism being open to people from different orientations professions, working as journalists requiring protection just to spread corruption, is one of the biggest threats faced by journalism.
Journalists noticed the spread of unprincipled journalists with no journalistic ethics amongst them, they tried to protect their profession from these corrupt outsiders who might annihilate the mighty of journalism. The principles of the journalism profession known as journalistic ethics, are one the most important formulations of the law concluded by the journalists and those concerned by the the profession, they were then published in public in order to prove their professionalism, especially for those who don’t und
... Show MoreThe topic of context is one of the important topics, which was mentioned as a concept in several fields and different fields, and there were many points of view that defined that concept.
He specified the title of the research (design contexts in the design of the interior space), as the research sought to identify the concept of context in the interior design of the spaces of sewing workshops. The research was divided into four chapters:
The first chapter, which consists of the methodological framework, the problem of research and the need for it, the importance of research, the goal and limits of research for sewing workshops for vocational schools from (2020-2021).
The second chapter: consists of previous studies and the theo
Low serum total adiponectin is associated with a high incidence of type 2 diabetes or coronary artery disease in the general population. Paradoxically, serum total adiponectin is elevated in patients with chronic kidney disease (CKD), such as overt diabetic nephropathy. The current study aimed to investigate whether or not anemia to be dependently associated with serum level of total adiponectin in non-albuminuric male patients with type 2 diabetes . The study included 42 type 2 diabetic male patients. Anemia was deï¬ned as hemoglobin (Hb) below 14.0g/dL. All the patients were without microalbuminuria, to exclude diabetic nephropathy. The diabetic patients were divided into 2 groups according to the hemoglobin level in ad
... Show MoreThe results show the inability to apply the Taylor rule within inflation and GDP Gaps because the monetary behave is elated from the Iraqi economy.
When applying the Taylor rule to exchange rate with the inflation and the output gap, the results do not match the nominal price announced by the central thing, which proves the lack of commitment by the Central Bank by using the Taylor rule, whether short-run interest rate or exchange rate (Nominal Anchor), so it did not stay to the Iraqi Central Bank only using the principle of Taylor with the expected inflation rate below the level of output (Macro activity) for the separation of monetary behavior from the real one o
... Show MoreA study was carried out to determine the concentrations of trace metals in vegetables and fruits, which are locally available in the markets of Baghdad-samples of fourteen varieties of vegetables and fruits, belonging to Beta vulgaris, Brassica rapa, Daucus carota, Allium cepa, Eurica sativa, Malva silvestris, Coriandrum Sativum, Trigonella Foenum craecum, Anethum graveolens, Barassica oleracea, Phaseolus vulgaris, citrus reticulata, Pyrus malus, and Punica granatum. Analysis for Cd,Pb, Mn, Fe, Co, Ni, Cu and Zn were determined by flame atomic absorption spectrophotometry. The results indicated that the Malva silvestris recorded the highest concentrations of Cd and Mn while Allium cepa showed the highest concentrations of Pb and Cu. But
... Show MoreA study was carried out to determine the concentrations of trace metals in vegetables and fruits, which are locally available in the markets of Baghdad-samples of fourteen varieties of vegetables and fruits, belonging to Beta vulgaris, Brassica rapa, Daucus carota, Allium cepa, Eurica sativa, Malva silvestris, Coriandrum Sativum, Trigonella Foenum craecum, Anethum graveolens, Barassica oleracea, Phaseolus vulgaris, citrus reticulata, Py rus malus, and Punica granatum. Analysis for Cd,Pb, Mn, Fe, Co, Ni, Cu and Zn were determined by flame atomic absorption sp ectrophotometry. The results indicated that the Malva silvestris recorded the highest concentrations of Cd and Mn while Allium cepa showed the highest concentrations of Pb and Cu. But E
... Show MoreThe issue of the public in the directions and theories of the theater director in the world theater, especially after the emergence of realism and the crystallization of the term direction and the definition of the role of the director in 1850 AD by the Duke Max Mengen took different paths to the Greek, Roman and even Elizabethan audience because it was here subjected to the theatrical equation from its production and presentation due to the fact that the theatrical performance is a technical artistic production, and the audience participation, watching and consumption, and here the participation of the audience was subjected to three directions: the enlightenment in the sense of arousing sense, the incitement in the se
... Show MoreThe behavior investigation of castellated beams with fiber-reinforced lightweight concrete deck slab as a modified choice for composite steel-concrete beams affected by harmonic load is presented in this study. The experimental program involved six fixed-supported castellated beams of 2140mm size. Three types of concrete were included: Normal Weight Concrete (NWC), Lightweight Aggregate Concrete (LWAC), and Lightweight Fiber-Reinforced Aggregate Concrete (LWACF). The specimens were divided into two groups: the first comprised three specimens tested under harmonic load effect of 30Hz operation frequency for 3 days, then the residual strength was determined through static load application. The second group included three specimens ide
... Show MoreBased on the assumption that the more teachers know about brain science, the better
prepared they will be to make instructional decisions.
Mind Mapping is a powerful tool for assisting any form of writing. Language is an
important device and a very beneficial means for human being to communicate with other
people .Writing is one of the language skills that will never be left in education.
The study aims at investigating the Impact of applying mind mapping technique as a prewriting
tool on Iraqi EFL college students in essay writing. To do so, 60 EFL college students
were divided randomly selected and divided into two groups experimental and control. Prior
to treatment, participants of the both groups were given a