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.
The nuclear structure included the matter, proton and neutron densities of the ground state, the nuclear root-mean-square (rms) radii and elastic form factors of one neutron 23O and 24F halo nuclei have been studied by the two body model of within the harmonic oscillator (HO) and Woods-Saxon (WS) radial wave functions. The calculated results show that the two body model within the HO and WS radial wave functions succeed in reproducing neutron halo in these exotic nuclei. Moreover, the Glauber model at high energy has been used to calculated the rms radii and reaction cross section of these nuclei.
The present study was conducted to determine histopathological changes caused by chronic effect of Nitrofurantoin(NFT) in The albino mice Testes. The Study included 40 mice were divided on the five groups: the first group taken distilled water and become control group . the remaining group which are exposure with NFT drug in concentration (100-150-200-250) mg / kg, respectively, Doses were given orally for a period (month and two months). The results of histopathological changes included occurrence of congestion in the blood vessel and degeneration of spermatogonia and aggregation of spermatids in the lumen of semineferous tubules and inhibition of spermatogensis process and decrease of sperm inside the lumen
... Show MoreFear, harvesting, hunting cooperation, and antipredator behavior are all important subjects in ecology. As a result, a modified Leslie-Gower prey-predator model containing these biological aspects is mathematically constructed, when the predation processes are described using the Beddington-DeAngelis type of functional response. The solution's positivity and boundedness are studied. The qualitative characteristics of the model are explored, including stability, persistence, and bifurcation analysis. To verify the gained theoretical findings and comprehend the consequences of modifying the system's parameters on their dynamical behavior, a detailed numerical investigation is carried out using MATLAB and Mathematica. It is discovered that the
... Show MoreCrude oil still affects many countries because it is one of the essential fuel sources. It makes life more manageable in modern communities and cannot be overstated because it is easy to use and find. However, the pollution caused by its use in industries such as mining, transportation, and the oil and gas business, especially soil pollution, cannot be ignored. Soil pollution is an issue in most communities because it influences people and ecology. Accidental infusions and spills of ore oils are prevalent occurrences leading to the entire or fractional exchange of the soil pore fluid by oil-contaminated soils that have affected the geotechnical engineering properties. The liquid limitations for polluted soil grades silty loam and sa
... Show MoreSlurry infiltrated fibrous concrete (SIFCON) is a modern type of fibre reinforced concrete (FRC). It has unique properties; SIFCON is superior in compressive strength, flexural strength, tensile strength, impact resistance, energy absorption and ductility. Because of this superiority in these characteristics, SIFCON was qualified for applications of special structures, which require resisting sudden dynamic loads such as explosions and earthquakes. The main aim of this investigation is to determine the effect of fibre type on the apparent density of SIFCON and on performance under impact load. In this investigation, hook-end steel fibre and polyolefin fibre were used. Purely once and
Baghdad Lake Touristic is suffering from a lake of tourism and entertainment services
efficiency provided to their visitors , knowing that this type of services as they are the basics
to achieve economic and socialist development because of their indicators where their goal is
to serve human in city as they represent lungs which population breathe within .
The Parks are resorted as human usually in search of quiet and funny places , away from
the noise of the city and its complex , as well as they give the city a beauty manifestations ,
that give happiness.
The study reached that there is deficiencies in service present, inability to provide
services and inadequate for the population and bad distribution. So the s
Compelling evidence proved that coronavirus disease (COVID-19) disproportionately affects minorities. The goal of the present study was to explore the effects of intersected discrimination and discrimination types on COVID-19, mental health, and cognition. A sample of 542 Iraqis, 55.7% females, age ranged from 18 to 73, with (M = 31.16, SD = 9.77). 48.7% were Muslims, and 51.3% were Christians (N = 278). We used measures for COVID-19 stressors, executive functions, intersected discrimination (gender discrimination, social groups-based discrimination, sexual orientation discrimination, and genocidal discrimination), posttraumatic stress disorder (PTSD), depression, anxiety, status and death, existential anxieties, and health. We conducted in
... Show MoreThe research aims to verify the Role of Internal Auditing in Assessing the Risks of Strategic Operations (Acquisition) and then reflect on management decisions. Since all corporations wish to expand, growth and domination of the market may expose them to multiple risks that lead to failure. The research assumes two main hypotheses. First, there is no role for internal audit in evaluating the strategic operations (acquisition). Second, there is no relationship between internal auditing in assessing the risks of strategic operations (Acquisition) and management decisions. The data was collected by using a questionnaire distributed to a group of private bank employees. The statistical analysis regarding research rejected the two hyp
... Show MoreThe neutron, proton, and matter densities of the ground state of the proton-rich 23Al and 27P exotic nuclei were analyzed using the binary cluster model (BCM). Two density parameterizations were used in BCM calculations namely; Gaussian (GS) and harmonic oscillator (HO) parameterizations. According to the calculated results, it found that the BCM gives a good description of the nuclear structure for above proton-rich exotic nuclei. The elastic form factors of the unstable 23Al and 27P exotic nuclei and those of their stable isotopes 27Al and 31P are studied by the plane-wave Born approximation. The main difference between the elastic form factors of unstable nuclei and the
... Show MoreAbstract
The aim of the current research is to identify the level of administrative applications of expert systems in educational leadership departments in light of the systems approach. To achieve the objectives of the research, the descriptive-analytical and survey method was adopted. The results showed that the level of availability of the knowledge base for expert systems in educational leadership departments (as inputs) was low. The level of availability of resources and software for expert systems in educational leadership departments (as transformational processes) came to be low, as well as the level of availability of the user interface for expert systems in educational leadership departments (as outputs
... Show More