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.
Background: Langerhans' cell histiocytosis (LCH) is a group of conditions affecting the reticuloendothelial system. It includes Letterer-Siwe disease, Hand-Schuller-Christian disease and eosinophilic granuloma and most often presents in childhood. Materials and methods: Twenty-five cases of LCH were diagnosed histologically and confirmed by CD1a antibody and assessed immunohistochemically using anti-RANKL and anti-RANK antibodies to evaluate osteoclastogenic mechanism. Results: Regarding jaw cases, there was a significant correlation between CD1a and RANK (P=0.016). While in the skull, highly significant correlation existed between RANK and RANKL (p=0.001). Among the sites, there was no statistically significant difference found for each
... Show MoreThe corrosion behavior of low carbon steel in washing water of crude oil solution has been studied potentiostatically at five temperatures in the range ( 303 –343 )K, at pH ( 4 ) and at pH (4,6,7,9,11 ) at (343K)..The corrosion potential shifted to more negative values with increasing temperature and the corrosion current density increased with increasing temperature, the corrosion current density (icorr) decreased with increasing pH in the rang ( 4 – 7 ) and it increased with increasing pH in the rang ( 9 – 11 ) at ( 343 K ), while the corrosion potential generally variation with increasing pH in the rang (4-11)at(343K. From the general results for this study can be seen that thermodynamic and kinetic function were
... Show MoreThis study was conducted at the College of Education for Pure Sciences (Ibn Al-Haitham), University of Baghdad. The aim of this study was to isolate and diagnose fungi from fish feedstuff samples, and also detection of aflatoxin B1 and ochratoxin A in fish muscles and feedstuffs. Randomly, the samples were collected from some fish farms from Baghdad, Babil, Wasit, Anbar, and Salah al-Din provinces. This study included the collection of 35 feedstuff samples and 70 fish muscle samples, and each of the two fish samples fed on one sample of the feedstuff. The results showed the presence of several genera of different fungi including Aspergillus spp, Mucor spp., Penicillium spp., Yeast spp., Fusarium spp., Rhizopus spp., Scopiolariopsis spp., Ep
... Show MoreThis is a brief research in which I tried to briefly explain the care that the Holy Qur’an received during the era of the Prophet, may God bless him and grant him peace, from the Prophet, may God bless him and grant him peace, and all of his honorable companions, may God bless him and grant him peace. I made this research in an introduction and two chapters, the first chapter I made it entitled: About the Holy Qur’an, in which I talked about general investigations about the Holy Qur’an, such as the definition of the Holy Qur’an and the difference between it and the hadith Qudsi and the hadith of the Prophet, then I mentioned a part of the virtues of the Holy Qur’an in general and the virtues of some surahs in particular, and th
... Show MoreThe importance of internal audit in the growing demand for services in the public and private economic units, and in the rapid growth of its systems professional, has also been recognition of the importance of internal audit quality and the quality of information provided in a long time, as well as the importance of achieving the greatest possible quality in his work to reduce accounting risks of financial reports misleading or fraudulent, which is one of the important features of the audit.
The internal audit quality are linked with the ability of auditors to detect errors in the financial statements, and their willingness to express an opinion technical neutral and non-aligned based on the results of th
... Show MoreAbstract The League of Arab States took many procedures against the Syrian political system, like suspended Syria's membership in the League of Arab States and sent a team of Arab observers headed by Dabi to discuss the situation there and issued some decisions and statements that called the Syrian regime to stop the use of violence and repression against the Syrian opposition.Through these steps, the Arab League has tried to help the Syrian parties to resolve the crisis. However, the role of the league in the Syrian crisis was characterized by weakness in general, and lack of seriousness, which contributed in the aggravation of the situation in Syria, and the intervention of major powers in the internal affairs of Syria.
This study includes the direct influence of (single & multi) dose of Cold Atmospheric Plasma (CAP) on the no. of platelets for mice for different exposure time (15, 30, 60, and 120) sec. the influence of CAP on mice was measured after 1, 2, 3, 7, and 14 day from exposure.
The results obtained in this study indicate that the effect of low doses of CAP on platelets was stimulatory effect in the first few hours from exposure (1day) but the high dose was inhibitory, It was found that after two weeks of exposure that the number of platelets became normal comparable to the control one, and this indicates that plasma effect was removed after this period.
Water drainage pattern in the rivers and changed the nature of the renewed feeding areas
in the basin in terms of topographic and geological conditions and climate in addition to the
human role in organizing the process flow within these basins. This study addressed the
development of the Tigris River Hydrological in the city of Baghdad and found that the
annual rate of water drainage in the Tigris River was driven down very significantly,
especially in the past twenty years, and since 1996 up to 2014 record flow rates of less than
the overall rate of discharge of water, a (950 m3 / s ), in addition to the quarterly decrease the
discharge rates, especially since the beginning of the year 2000 and took converge all fo
The city of Ghana is one of the important commercial cities in the country of Sudan, as it was a major source of commercial exchanges, and a commercial mediator across the countries of the Maghreb and the metropolises of the countries of Sudan. Many, and most of them take the desert road, Which traders had to endure the hardships of these roads from the insecurity, high winds and dust that sometimes destroyed the trade convoys, in order to obtain gold, which is one of the most important minerals that Ghana traded with various countries, in addition to the different goods that the merchants carried In particular, salt and its trade with Ghana, and also taxes, which were an important financial resource imposed by some gov
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