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: The novel coronavirus disease (COVID-19) is caused by Severe acute respiratory syndrome coronavirus 2 (SARS-Cov2) which utilizes angiotensin converting enzyme2 (ACE2) to invade the host cells. This membrane-bound peptidase is widely distributed in the body; its activity antagonizes the renin-angiotensin-aldosterone system (RAAS). Once SARS-Cov2 enters the cell, it causes downregulation of ACE2, resulting in the unopposed activation of RAAS. The unregulated activity of the RAAS system can deteriorate the prognosis in COVID-19 patients. A soluble form of ACE2 (sACE2) was reported to have a role in the SARS-Cov2 invasion of the susceptible cells.
Aim of the study: This study aims to inve
... Show MoreBackground: Leukemia is a group of malignant disorders
associated with increased numbers of blood white blood
cells. Acute leukemia occurs at all ages. Because zinc
influences many body systems and functions, zinc is an
essential nutrient for tissue growth, cellular division,
protein synthesis DNA and RNA replication it also ought to
play a critical role in the growth of tumor. In this study,
serum zinc was estimated in leukemic patients and
compared with healthy subjects.
Methods: The subjects in the present study were; fourtyfour depressed patients aged (14-48 year), thirty-one
apparently healthy subjects were selected as control group.
Their sex and age were comparable to that of patients.
Determin
Vocational stresses and their relation with the level of ambition among the lecturers of the university In general , vocational stresses affect the attention and the process of focusing making individual busy with solving of his daily problems instead of his job. The vocational stresses , anxiety and tension are factors effecting the physical and psychological ability of the individual. This study aims to measure the vocational stresses among the lecturers of the university , to measure the level of ambition among them, to identify the statistical differences significant among them according to sex variable, to identify the differences significant in level of ambition among them according to sex variable and to identify the correlation r
... Show MoreAcquires this research importance of addressing the subject (environmental problems) with
age group task, a category that children pre-school, and also reflected the importance of
research, because the (environmental problems) constitute a major threat to the continuation
of human life, particularly the children, so the environment is Bmchkladtha within
kindergarten programs represent the basis of a hub of learning where the axis, where the
kindergarten took into account included in the programs in order to help the development of
environmental awareness among children and get them used to the sound practices and
behaviors since childhood .
The research also detected problem-solving skills creative with kids Riyad
BACKGROUND: Sickle cell nephropathy, a heterogeneous group of renal abnormalities resulting from complex interactions of sickle cell disease (SCD)-related factors and non-SCD phenotype characteristics, is associated with an increased risk for morbidity and mortality. AIMS: The aims of this study were to determine the frequency of microalbuminuria (MA) among pediatric patients with SCD and to determine risk factors for MA among those patients. SUBJECTS AND METHODS: A case–control study was carried out on 120 patients with SCD, 2–18 years old, registered at Basrah Center for Hereditary Blood Diseases, and 132 age-and sex-matched healthy children were included as a control group. Investigations included complete blood panel, blood urea, se
... Show MoreThe present work describes guggul as a novel carrier for some anti-inflammatory drugs. Guggulusomes containing different concentration of guggul with aceclofenac were prepared by sonication method and characterized for vesicle shape, size, size-distribution, pH, viscosity, spread ability, homogeneity, and accelerated stability in-vitro drug permeation through mouse skin. The vesicles exhibited an entrapment efficiency of 93.2 ± 12%, vesicle size of 0.769 ± 3μm and a zeta potential of - 6.21mV. In vitro drug release was analyzed using Franz’s diffusion cells. The cumulative release of the guggulusomes gel (G2) was 75.8% in 18 hrs, which is greater than that all the gel formulation. The stability profile of prepare
... Show MoreDue to the development that occurs in the technologies of information system many techniques was introduced and played important role in the connection between machines and peoples through internet, also it used to control and monitor of machines, these technologies called cloud computing and Internet of Things. With the replacement of computing resources with manufacturing resources cloud computing named converted into cloud manufacturing.
In this research cloud computing was used in the field of manufacturing to automate the process of selecting G-Code that Computer Numerical Control machine work it, this process was applied by the using of this machine with Radio Frequency Identification and a AWS Cloud services and some of py
... 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 MoreKE Sharquie, AA Noaimi, GA Ibrahim, AS Al-Husseiny, Our Dermatology Online, 2016 - Cited by 3