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.
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The research problem lies in the lack of accurate scientific perceptions concerning the reality of the communicator and the factors influencing his job. The research is aimed at introducing the communicator in the university press, clarifying the obstacles facing him, and uncovering the level of his job satisfaction and his visions of developing his work. The researcher adopted the survey method in the collection, analysis, and interpretation of the data using a questionnaire. A set of results and conclusions has been reached, most importantly are:
*The communicator performs multiple missions including writing, editing, and collecting info |
Background: 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
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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
The 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
... 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 MoreThis 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 More“Child of today is a man of the future" this slogan is one of the most popular logos of international organizations and institutions that dealing with human beings needs in general and children needs in particular, whether these needs are educational, health, social, or economic. Children require special care and extra legal protection, since the child-raising is not the Child’s own issue, but it's the issue of the society in which he/she would integrate.
As the education and language skillsacquisition primarily associated with hearing, because human being receives most of the skills and knowledge through the hearing; that imitate sounds and learn how to speak isacquired only by hearing, so therefore the hearing - impairedchi
... Show MoreIn this research, we discussed and analyzed the relationship between oil prices and the U.S. dollar exchange rate in Iraq. The study adopted the descriptive analysis and econometrics analysis. The descriptive analysis refers to the rise (fall) in crude oil price lead to appreciate (depreciate) in the Iraqi dinar exchange rate, though the channel of the international reserves. The econometrics analysis is based on monthly data covered the period (December/2002 – December/2011), the unit root test, co-integration test, vector error correction model, and Granger causality test have been adopted in this research to check the existence and direction of this relationship. The results refer to the lon
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