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.
This study aimed to identidy the role of a professional social worker practice specialist in the field of social care for Corona patients, in light of some demographic variables such as (gender, marital status, economic status,), through a field study at the Iraqi Ministry of Social Affairs. A random sample of (50) social workers in the Iraqi Ministry of Social Affairs in various places affiliated with the ministry was chosen. a questionnaire developed by the researcher about the role of the social worker in the field of social care for Corona patients was administered to the study sample to collect the needed data. The results showed that there is a positive statistically significant correlation relationship at the level (0.01) between
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Recently on the dermatological fields, the serum levels and the roles of Zn, Cu and Mg have been studied especially in acne vulgaris, but the results were controversial. The aim of the present study is to investigate a relationship between the severity of acne and the serum levels of zinc (Zn), copper (Cu) and magnesium (Mg) and to demonstrate the status of serum levels of zinc, copper, and magnesium in Iraqi male patients with acne vulgaris and to compare it with those of healthy controls.This case controlled study was conducted in the Department of Dermatology and Venerology and in the Poisoning Consultation Center of Baghdad Teaching Hospital between May 2009 to January 2010. Forty- five male patients with acne vulgaris, their a
... Show MoreCongenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing
The present study evaluated the anti- Helicobacter pylori IgG, IgA and the role of virulence factor of H. pylori Vacuolating associated cytotoxin gene (Vac A) as a risk factors for CAD. The levels of serum IgG and IgA was done by indirect immunofluorescent (IIF) whereas Vac A measured by enzyme linked immunosorbent assay (ELISA). Ibn Al-Bitar specialist center for cardiac surgery laboratory and Ministry of Health/ Baghdad/ Iraq, between May and October 2018. Seventy Iraqi patients with CAD were enrolled in this study, their ages ranged between 40-84 years ; and 20 individuals as a control group which was divided into 2 subgroups: 10 apparently healthy volunteers (negative control) and the other subgroup contained 10 with normal coronary art
... Show MoreCiprofloxacin is widely used in treating adults infected with Gram-negative bacteria. It is contraindicated in children, growing adolescents and during pregnancy due to joint toxicity. Its toxicity concerning other organs needs to be clarified. Thus, this study was designed to study the possible cardiac damage induced by two selected doses of ciprofloxacin in juvenile rats.Eighteenth healthy juvenile rats (4 weeks old and their weight 30 ± 2 gm) were utilized in this study and divided into three groups. Group-I control; group II and group III, respectively injected IP with 25 mg/kg and 50 mg/kg ciprofloxacin every 12 hours for one week. Serum enzymes activities alanine aminotransferase (ALT), aspartate aminotransferase (AST), cr
... Show MoreThe role of free radicals generation and Lipid Peroxidation
during the course of ischemic heart disease is well establshed as a basic for Pthogenesis and subsequent tissue damage consequenes . In an attempt to shed a light on the possible relationship between lipid peroxidation and some antioxidant.
The effect of vitamine E (as a potent antioxidant free radical scavenger) . On the serum levels of the Lipoproteins, (HDLc) High Density Lipoprotein , (LDLc) Low Density Lipoprotein and (VLDLc) very Low Density Lipoprotein in healthy donors.
The study includes (50) healthy donors from males and females ,
... Show MoreRoughness length is one of the key variables in micrometeorological studies and environmental studies in regards to describing development of cities and urban environments. By utilizing the three dimensions ultrasonic anemometer installed at Mustansiriyah university, we determined the rate of the height of the rough elements (trees, buildings and bridges) to the surrounding area of the university for a radius of 1 km. After this, we calculated the zero-plane displacement length of eight sections and calculated the length of surface roughness. The results proved that the ranges of the variables above are ZH (9.2-13.8) m, Zd (4.3-8.1) m and Zo (0.24-0.48) m.
β-thalassaemia consists of 3 chief forms: thalassaemia primary (other called "cooley's Anaemia" or "Mediterranean durability Anaemia"), thalassaemia intermedia or thalassaemia minor also frequent termed "β-thalassaemia carrier", "β-thalassaemia trait" however, "heterozygous β-thalassaemia". separately from the rare magisterial forms, problem along β-thalassaemia essential are homozygotes or made heterozygotes because B0 and B+ genes, problem including thalassaemia intermedia are typically homozygotes and compound heterozygotes then subjected with thalassaemia minor are broadly heterozygotes.
In this study, we t
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