Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.
Iraqi calcium bentonite was activated via acidification to study its structural and electrical properties. The elemental analysis of treated bentonite was determined by using X-ray fluorescence while the unit crystal structure was studied through X-ray diffraction showing disappearance of some fundamental reflections due to the treatment processes. The surface morphology, on the other hand, was studied thoroughly by Scanning Electron microscopy SEM and Atomic Force Microscope AFM showing some fragments of montmorillonite sheets. Furthermore, the electrical properties of bentonite were studied including: The dielectric permittivity, conductivity, tangent loss factor, and impedance with range of frequency (0.1-1000 KHz) at different temperatu
... Show MoreClimate change is a global environmental issue and a common concern for humanity, and it is an inevitable result of civilization development, especially after the industrial revolution All areas of life At the level of the Iraqi situation , Iraq faces several challenges posed by Climate change , Such as high temperature, lack of rain, water scarcity , land salinity , and the increase in the proportion of sand and dust storms and the resulting disasters, which impedes development and hinders efforts to reduce poverty , enhance livelihoods , and reduce conflict to obtain natural resources.
... Show MoreIraqi oil crudes have some of the physical and chemical characteristics that distinguish it from other types of oil crudes in the world. Some of these features such us molecular composition, rheological, viscosity and emulsions are studied carefully by researchers. In this work, a comparative study of the linear and the non-linear optical properties for typical heavy and light crude oils of Iraqi origin was studied utilizing Z-scan technique. The He -Ne laser of wavelength 632.8 nm had been used for this purpose. These samples were collected from Basra and Kut oil fields. The values of the non-linear refractive index (n2), non-linear absorption coefficient (β), and third-order electrical susceptibility (χ3) were e
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The research has discussed the public relations as dependent variable of its branch dimensions( confidence , commitment, control and satisfaction ) and the governmental service quality as independent variable of its branch dimensions (response, dependency, emphasis, tangibility and sympathy), and the research problem has represented by weakness of service quality presented to the customers dealing with company, which is observed via field co-existence of the researcher, where he observe that the quality presented in the company services, are inappropriate with the customers expectations level, also there is weakness of attention and recognition by the
This research amid to measure the impact of organizational flexibility (structural flexibility, operational flexibility, and strategic flexibility) in achieving organizational prosperity and its dimensions (strategic agility, intellectual capital, innovation and sustainable competitive advantage) in a number of Iraqi cellular communications companies. The research adopted descriptive analytical approach. A sample of (85) persons from the research community was selected, which included (Department managers, Directors administrative units, Communication engineers), to answer the questionnaire prepared for this purpose. And to analyze data and derive results. Statist
... Show MoreBackground: Central serous chorioretinopathy (CSCR) is an idiopathic condition aggravated by exogenous or endogenous glucocorticoids. Vascular deregulation in the choroid is a new hypothesis regarding central serous chorioretinopathy occurrence. The inhibition of choroidal mineralocorticoid receptors has a great role in shortening the duration of CSCR by inhibiting choroidal vasodilatation and leak.
Objective: To assess the effect of oral spironolactone on subretinal fluid, central macular thickness and visual acuity in patients with acute CSCR compared to observation.
Subjects and Methods: a hospital based, randomized clinical trial carried out at outpatient clinic in Ibn-Alhaitham Teaching E
... Show MoreTraining has occupied a leading position in a large number of developed and developing countries alike in order to develop the skills of workers in line with the changes and developments of the era, including monitoring compliance in banks, which is one of the most important jobs in banking work to trailing and monitor the bank’s compliance with laws, regulations and instructions in order to achieve its goals Therefore, the problem of this research focuses on the following question: What is the role of training in enhancing banking compliance at the present time? In order to clarify the relationship between the main and sub-research variables, two main hypotheses and three sub-hypotheses were formulated for each hypothesis, and t
... Show MoreThe effectiveness and quality of legislation depend on the extent to which it relates to political , economic ,social ,geographical , health and moral realities , so the unrealistic legislation and its failure to address all the problems facing society make these legislation out of reality , this requires this legislation be able to regulate all aspects related to public health in society in exceptional circumstances such as cases of wars ,diseases and pandemics as outbreaks of corona virus in the word ,this study focuses on the effects of legislative omission on the effectiveness of the administration when performing its tasked in health administrative control in exceptional circumstances in light of spread of corona virus pandemic in Iraq
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