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.
KE Sharquie, RA Najim, RK Al-Hayani, AA Al-Nuaimy, DM Maroof, Saudi medical journal, 2008 - Cited by 74
Vancomycin Staphylococcus aureus (VRSA) is a strain of S. aureus that is considered the main cause of bacterial skin and soft tissue infections. It has acquired resistance to vancomycin and represents a therapeutic challenge. The current study aimed to compare the possible therapeutic effects of VRSA bacteriocin (VRSAcin) on the treatment of skin infection in mice with those of an antibiotic (linezolid). The results showed that of the fifty swabs obtained from human skin wounds. One isolate was selected for VRSAcin extraction depending on its antibiotic resistance using an antibiotic susceptibility test.An agar well diffusion test was used to determine bacteriocin’s antibacterial activity, as well as its a minimum inhibitory concentration
... Show MoreSince the law is the tool for implementing the state’s public policies, it is natural that its provisions (or at least some of them) seek to preserve human dignity as the source on which all rights and freedoms are based. One of the examples of humanizing the provisions of the law in France is what is known as the winter truce. What is this truce, what are the justifications for granting it, what is its historical origin, how did the legislative treatment of it develop, what are the similarities and differences between it and other legal periods included in French law, what is the scope of its application, and what are the effects resulting from it. These questions and others are what we will try to answer through this research.
The marshes form large areas in southern Iraq, which are large water bodies, covered by reeds and papyrus plants. The marshes are characterized by distinctive physical elements, which have given them a unique and unique identity that can be clearly distinguished by the physical pattern. The physical environment derives its identity through a group Of inputs that interact with each other and represent both cultural and social inputs of the most important inputs that affect the formation of identity, and in the physical environment of the Marshlands many of the symbols that are associated with the collective memory of individuals, these symbols have value in the community Thus, the preservation of these symbols and inherited from one gener
... Show MoreThe agricultural sector suffers from many risks and natural disasters, such as droughts and heavy rains that cause floods, as well as hail and agricultural pests, etc., that threaten agricultural activity and reduce it, which leads to the failure of farmers and peasants for fear of being subjected to continuous losses. Nevertheless, we notice almost complete reluctance to move towards agricultural insurance, due to the dependence of farmers on the government, which adopts the principle of compensation instead of agricultural insurance when natural disasters happen despite the difficulties and financial hardship as well as the suspicion of corruption that haunt the compensation process and this represents the most important problem for resea
... Show MoreBackground: Colorectal cancer (CRC) is a major killer, and nonalcoholic fatty liver disease (NAFLD) affects almost one-quarter of the global population. The aim of the study is to Investigate the correlation between nonalcoholic fatty liver disease (NAFLD) and an increased risk of colorectal cancer (CRC), as well as the relationship between liver function enzymes and specific serum biomarkers in CRC patients with NAFLD. Methods: A case-control study involving 60 participants was conducted from February to August 2022. The patients with colon cancer were examined at Baghdad Medical City's Al-Amal Hospital for Radiation and Nuclear Medicine and Oncology Teaching Hospital, and blood samples were taken. Thirty patients with NAFLD who ha
... Show MoreThis research seeks the effects of dubbed Turkish TV series on Iraqi audiences. The chosen sample is about 600 Iraqi students at Baghdad and al-Anbar Universities. This study consists of four sections: section one deals with the theoretical framework of the study. Section two studies the dubbed Turkish TV series. The third section explores the role of mass media in forming tendencies, and the last section seeks the field study by analyzing the tendencies if Iraqi viewers of these series.
The goal of this study is to know the role these series played in affecting the behavior and attitudes of Iraqi people and how it can change their morals.
The research ends with the number of results like the negative effect of these series on the