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.
A representative sample of a thousand volunteer university students was screened for evidence of thalassemia minor.Complete blood counts using automated blood cell analysers and blood smears were examined. Patients having anemia, abnormal red cell indices or morphological features of thalassemia minor like hypochromia, microcytosis, target cells erythrocytosis and family history of thalassemia were then investigated for determination of HbA2 & HbF levels. Estimation of hemoglobin A2 was performed by micro-column chromatography while HbF was done using alkali denaturation. Seventy seven out of the thousand samples tested positive for thalassemia minor. They all showed a hemoglobin A
Background: Thalassemia is characterized by the decrease or absence of the synthesis of one or more globin chains of hemoglobin. Thalassemia is distributed worldwide and is characterized by; regular blood transfusion which is creating alloimmunization to erythrocyte antigens is one of the major complications of regular blood transfusions in thalassemia, particularly in patients who are chronically transfused.Objectives: The aims of this study are to understand the immune system profile as the triggering factor for thalassemia.Methods: Thirty patients aging between one year and four months and twenty two years, twenty two of them were boys and eight were girls. Twenty nine patients, their parents are relative except one and studied in the
... Show MoreThe need for wireless sensing technology has rapidly increased recently, specifically the usage of electromagnetic waves which becoming more required as a source of information. Silicon carbide (SiC) Nano particles has been used in this study, the material under test (MUT) was exposed directly to a microwave field to examine the electromagnetic behavior. The permittivity and permeability were investigated with different filler materials to approach best and optimal electromagnetic absorbing characteristics to assist engineers to monitor structure-based composite for defects evaluation that may occur during operation conditions or through manufacturing process. XRD, FESEM and both complex permittivity and permeability were measured f
... Show MoreIn this review of literature, the light will be concentrated on the role of stem cells as an approach in periodontal regeneration.
The educational service industry is one of the most negatively affected industries by the spread of the COVID-19 pandemic. Government agencies have taken many measures to slow its spread, and then restrict movement and gatherings and stop recreational activities. Furthermore, the repercussions of the curfew had a significant impact due to the interruption in actual attendance for students and employees, and the severity of the Covid-19 crisis and its (economic, social, security, humanitarian and behavioral) effects on all societies and work sectors is no secret to anyone. Iraq, like other countries, was also affected by the negative impact of Covid-19 pandemic in all fields of institutional work, especially public fields, and specifically t
... Show MoreThe wide spread of Computer Based Test in the Iraqi universities raised an important concern for some scholars thinking about integrating computers as an academic assessment tool before making big change in the examination systems, that concern is: how the computerized test score is effected in comparison to old paper and pencil . This paper researches whether test scores of Iraqi students varies in the computer, Pencil based tests, sixty-four postgraduate graduates from Iraqi universities. Thirty five female and twenty nine male, all graduated from colleges of science in specializations other than computer science and applying for postgraduate studies in the Iraqi
... Show MoreBreast cancer is the most prevalent malignancy among women worldwide, in Iraq it ranks the first among the population and the leading cause of cancer related female mortality. This study is designed to investigate the correlations between serum and tissue markers in order to clarify their role in progression or regression breast cancer. Tumor Markers are groups of substances, mainly proteins, produced from cancer cell or from other cells in the body in response to tumor. The study was carried out from April 2018 to April 2019 with total number of 60 breast cancer women. The blood samples were collected from breast cancer women in postoperative and pretherapeutic who attended teaching oncology hospital of the medical city in Baghdad and
... Show MoreBackground: One of the significant public health problems is the traumatic dental injury to the anterior teeth, it has a great impact on children’s daily. Physical and psychological disturbance, pain and other negative impacts, such as tendency to avoid laughing or smiling may be associated with traumatic dental injuries, that may affect the social relationships. To determine the occurrence of traumatic dental injuries in relation to quality of life, this study was established among children of primary schools. Material and Methods: A cross-sectional study was conducted among private (574) and governmental (1026) primary school children in Baghdad city. Dental trauma was assessed according to Ellis and Davey classification in1970
... Show MoreObjective: To determine the effect of instructional program on infertile women's knowledge regarding
diagnostic and therapeutic intervention for infertility.
Methodology: Non-probability (purposive sample) of (100) infertile women, who visit Kamal Al-Samaraee Hospital/
fertility and IVF center. The data are collected through the use of constructed questionnaire, which included:
demographic characteristics, social status, previous medical history, reproductive status, sexual status and questions
regarding women’s knowledge about infertility. Instrument validity and reliability was determined. Data were
collected through the use of questionnaire, the application of the instructional program was done for the study group<