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.
Type 2 diabetes mellitus which abbreviate as T2DM is a complex endocrine and metabolic disorder arisingfrom genetic and environmental factors interaction which in turn induce various degrees of insulin functionalalteration on peripheral tissues. Globally, T2DM has develop into a public health problem. Therefore, Thestudy included (75) patients(37 female and 38 males) suffering from T2DM who visit al-kadhimiya teachinghospital with age range 20-80 years and (70) as healthy controls with age range 20-70 years. All studiedgroups were evaluated CMV IgG by ELISA,B. urea, S. Creatinine, cholesterol and triglyceride the resultsshowed that B.urea, S.creatinine and serum cholesterol showed a non-significant differences between studiedgroup,
... Show MoreBackground: Periodontitis (PD) is well-known chronic disease affecting the periodontal ligament and alveolar bone, Osteoarthritis (OA) is a chronic joint disease with compound reasons characterized by synovial inflammation, subchondral bone remodeling, also the formation of osteophytes, that cause cartilage degradation. Chronic periodontitis and osteoarthritis are considered widely prevalent diseases and related to tissue destruction due to chronic inflammation in general health and oral health. The aim of this study is todetermine the association of chronic periodontitis and osteoarthritits in patients by analysing tumor necrosis factor alpha TNFα and high sensitive c-reactive protein (hsCRP) in the serum. Materials and Method: A tot
... Show MoreThe Child is the first sedum for the human society performing, and we deal in our
research to explain the nature of the mutual relations in between the form and the medicine
social caring foundation. So the motherhood and the childhood nowadays become the most
dedicated in the researchers works, whom interesting in the social affairs, and that whom
work in the medicine field as scientists.
So the child is the future man and must be in wright body construction that need to great
care and interest to make him wright mind through capability of performing anything support
to him.
In our research we deal with the main factors in which lead to infect the child by the
creative malfunction, like the environmental and m
The novel has recently received great attention from readers and before them writers, due to the role it is playing, and this indicates an important rule, which is whenever there is art or creativity, there must be a criticism of its own, and this criticism is certainly no less important than its owner, so we find There are critics who have their distinguished literary position in following up the narrative development, and trying to describe the transformation of its elements, including Professor Fadel Thamer, and whoever wants to approach an element of the novel as an explorer, he must stand on the visions of this critic about it, and this is what made us take the element (personality) Tracking the most important opinions of the critic
... Show MoreNovel has recently received the attention of readers and writers greatly, because of the role they play, and this indicates an important rule, which is whenever there is an art or creativity, there must be a respective criticism, and this criticism is certainly not less important than the author. So there are critics who have a prestigious literary position in the follow-up story development, and trying to describe the transformation of its elements. One of these critics is professor Fadhel Thamer, and who wants to approach one of the elements of the novel exploring, must stop on the visions of this critic about it , and that’s why we take the (character) element following the most important opinions of this critic about
... Show MoreBleeding disorders in pediatrics is an important issue and can be lifethreatening if not diagnosed and treated appropriately. We aimed to evaluate Iraqi pediatric practice (as an example of resource-limited settings) about the use of Recombinant Activated Factor VII (RFVIIa) in bleeding disorders, with emphasis on its effectiveness and safety, in comparison with adjuvant therapy. Budget restrictions may affect the availability of even lifesaving drugs such as (RFVIIa). Therefore, we tried to investigate the local experience of pediatric bleeding, with the evaluation of the potential ability of adjuvant therapy of blood products and vitamin K to substitute RFVIIa in case of non-availability. During a complete one year‘s period, 35 patients
... Show MoreSM ADAI, BN RASHID, Journal of Current Researches on Social Sciences, 2023