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: Consanguineous marriage is a relationship between biologically related individuals. Genetic factors have a role in gene environment interactions that takes the center stage. The evidence of oral disease (gingivitis and periodontitis) may depend on genetic syndromes, inherited diseases, familial studies etc. The present study aims at assessing dental plaque and gingival health condition in children of inbreeding parents compared with children of outbreeding parents among primary schools in Al-Qasem city/ Babylon governorate in Iraq. Materials and methods: this comparative study included three hundred ninety eight (398) students, 6-12 years old, from 4 primary schools; 199 children had their parents of inbreeding marriage with
... Show MoreThe most frequently diagnosed condition in women at the age of reproduction is the polycystic ovarian syndrome (PCOS).it could be related to a complex endocrine condition, due to its heterogeneity and uncertainty about its etiology, as the clinical highlights of PCOS incorporate those related to reproductive signs such as decreased frequency of ovulation, irregular menstrual cycles, decreased fertility. Carnitine plays a substantial role in weight loss, glucose tolerance, insulin function and fatty acid metabolism. Thus carnitine plays a crucial role in controlling obesity, insulin resistance, oxidative stress that are associated with PCOS .While, AGEs are a diverse group of reactive molecules that are formed end
... Show MoreThe translation of phraseological units is among the most challenging tasks in literary translation, as fixed expressions convey denotative, connotative, and cultural meanings that resist full equivalence. This study classifies the strategies employed in the Russian translation of Viola Ardone’s The Train of Children, drawing on the frameworks of Vinay and Darbelnet, Newmark, and Koller. Analysis of 37 idioms reveals five strategies, with phraseological equivalence prevailing, while compensation—though less frequent—emerges as stylistically most significant.
Type 2 diabetes mellitus is a progressive and chronic disease manifested by β-cell dysfunction and improved insulin resistance. Higher levels of urokinase-type plasminogen activator receptors have been found to predict morbidity and mortality among diabetic patients with cardiac disease.
This study aims to explore the role of serum urokinase-type plasminogen activator receptor levels as a prognostic marker among type 2 diabetic Iraqi patients.
This study focused on a fundamental issue which was represented by ability of Iraqi central bank in facing the difficulty of determining the optimal ratio of liquidity in the Iraqi banks in terms of the balancing between its obligations to the depositors and borrowers, and liquidate their funds on one hand and the risks on the other hand.the search aimed for achieving the goals which represented by identifying the possibility of Iraqi banks to apply the regulations rules and instructions issued by central bank of Iraq in determining ratio of liquidity and its appropriate with Iraqi banks action to implement a reasonable profit to&
... Show Moreالعقم هو أحد المشاكل التي تواجه النساء والرجال. تعد السمنة واضطرابات مستوى الدهون، وكذلك مقاومة الأنسولين، من عوامل الخطر التي تسبب العقم، بالإضافة إلى العوامل الأخرى ذات الصلة. تهدف هذه الدراسة إلى معرفة تأثير السمنة واختلال توازن الدهون مع دراسة علاقة كل من ثنائي الببتيديل ببتيديز-4 وعامل نخر الورم-الفا لدى النساء المصابات بالعقم مقارنة بالنساء غير المصابات به، لتحديد مدى إمكانية اعتمادها كعوامل تشخي
... Show MoreBackground: Depression, a state of low mood and aversion to activity, can affect people's thoughts, behavior, tendencies, feelings, and sense of well-being. It can either be short-term or long-term, depending on the severity of the person's condition. Risk factors include personal or family history of depression, major life changes, trauma, stress, certain physical illnesses, and medications.
Objective: This study investigates the prevalence of depression among medical students at the University of Baghdad, college of medicine in Iraq, and the association between some variables and depression.
Subjects and Methods: A cross-sectional study design with a convenience sampling method was conducted.
... Show MoreWe studied the relationship between DNA sequencing of interleukin-10 (IL-10) gene promoter for -1082 (A/G) and -592 (A/C) positions with the concentration of IL-10 in blood serum of Iraqi children with type 1 diabetes mellitus (T1D). Fifty blood serum samples collected from children with age ranged between 7-12 years. Thirty-five blood samples collected from patient children with T1D, and compared with 15 healthy children age matched as control sample. The results revealed decreasing in anti-inflammatory IL-10 concentration in T1D patient’s blood serum (0.068 Pg/ml) as compared with the control sample (0.111 Pg/ml). No significant differences were found in interleukin concentration between the studied samples when they analyzed with the M
... Show MoreThe elections of the Council of Representatives in Iraq are one of the manifestations of political participation, which makes it attracts the attention of researchers. Where Iraq witnessed in 2005 important political events in the Iraqi arena, a pluralist parliamentary elections or elections in Iraq by direct free election on January 30, the first almost half a century ago. On November 15 of the same year, Iraq adopted a permanent constitution for the country through a popular referendum.