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 materials of soil were affected by multi reasons; such as human activities, floods, tidal waves, ... etc. The change of the soil contents could be measured through different indexes; such as electric conductivities, salinity, concentration of the heavy elements, and concentration of essential elements ... etc. The land cover is affected by natural influences, like tidal energy, which plays a negative role in the salinization of land adjacent to the coasts, causing a problem for soils in all its details represented in changing of the dissolved elements in soil. One of the most important natural factors that cause soil salinity is human activity in all its forms, and one of the most important causes of salinity is the phenomenon o
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This Paper aims to know the modern approaches of determining the Qiblah and its ruling in Islamic Faqah, as well as to find out the required in the identity of the Qiblah or the eye, and the care of the advanced Jurists in this matter, and to present some of their sayings on the issue. we have followed the Descriptive analytical method of the aspects of the jurists ’difference in what is required when facing the qiblah either the eye or aspect, the approach of several demands branched out from each topic, which were answered in the theoretical framework of the research, and the research concluded with the most important results: The need to receive the eye of the qiblah for the worshiper who is close to it and it is no
... Show MoreHomosexuality is one of the important topics that have emerged in recent times in the Islamic and Arab world, as the topic was in the past one of the taboos and majorities and one of the topics that arouse disgust and is talked about secretly and practiced secretly as well.But today, with international and organizational support for this anomaly and its misrepresentation under the name of gender once again and gender again. It began to spread in all countries of the world, including Islamic and Arab countries, and with the presence of associations and influential people in the legislative and judicial authorities of countries that protect and defend homosexuals. Writing on this subject has become a necessity and a duty; to warn against the
... Show MoreExamination of the blood and the alimentary canal of moorhens in two sites around
Baghdad area in the middle of Iraq showed that 38% of the examined birds were infected with
one or more of the following parasites, Haemoproteus baghdadensis, H. gallinulae
(Protozoa), Cyclocoelum mutbile (Trematoda), Diorchis inflata, Ligula intestinalis (Cestoda),
Amidostomum fulicae and Porrcaecum sp. (Nematoda) .The stomach analysis revealed that
the bird is omnivorous in feeding including wid range of invertebrate animals with some plant
origin food items.
Environment suffered in recent years a large corrupting by human; and because of his ignorance of the dimensions of Caliphate in the ground and ignore what it means gearing. The gearing is that the son of Adam, which will benefit the board of Allah Almighty to him in the land of the causes of life, without exaggeration or negligence and without prejudice to the cosmic Balnoames enacted by the Almighty Creator, has urged verses of the Quran Muslim to preserve and protect the environment which is a religious duty, as it showed a great verses he is the author and the splendor and beauty of workmanship and manufacturer greatness of the Almighty, who created all things beautiful.
Koran played a major role in the consolidation of environmen
Highlighting the role of the movement and its dramatic dimensions, as an artistic product, whether at the level of cinema or television in general, and the stages of its influence within the structure of the cinematographic scene in particular, had an effective role in the continuation of the structure of the event according to its dramatic and aesthetic process, and from this the research problem crystallized in the following question: What is How the kinetic diversity of the camera in the structure of the cinematographic scene is achieved to achieve the maximum possible benefit by extrapolating all opinions in line with the objectives of the research, the research presented and two topics and the introduction were divided, which
... Show MoreConcentrated research topic in the study of variables key to the work of offices of inspectors Amyin ، a (re- design function، and performance Organisational ) and took this message to know the nature of the relationship and the impact of the dimensions of the re- design function as a variable interpretative through its dimensions، is ( the diversity of skill، selecting the task ، the importance of task، autonomy، feedback )، and performance Organisational variable responsive through two dimensions are ( effectiveness ، efficiency )، and in order to test the research hypotheses were absorbed variables in the form of a questionnaire and were questionnaire primary means of gatheri
... Show MoreKnowing the Messengers, peace and blessings be upon them, and explaining their obligatory, impossible, and permissible qualities is a legal necessity. It is a rooting of the faith, a means of understanding the Sharia, and a preventer from falling into the scourge of denial and bad manners against them. Therefore, sound belief in their presence is a major reason for the validity of the faith in the aspect of divinity and unseen hearing. Studying the status of prophethood is an urgent necessity in a time in which knowledge is scarce and attachment to the Messenger, may God Almighty’s prayers and peace be upon him, his family, and his companions, is weak, and suspicions and ideas hostile to the faith abound until we begin to hear - unfort
... Show MoreObjective: preparing educational units for the magnet poles strategy in learning the spiking skill in volleyball, and identifying the effect of the magnet poles strategy in learning the spiking skill in volleyball for female students.Research methodology: The experimental design with two equal experimental and control groups with tight control was also adopted in the pre- and post-tests. The boundaries of this research community are represented by fourth-grade middle school students at Basra Girls' Middle School (2024-2025), whose total number is (90) students, distributed by nature into 4 sections. Sections (A-B) were determined by lottery, so that Section (A) represents the experimental group and Section (B) represents the control
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