Pompe disease is a progressive, multisystemic, debilitating, often fatal neuromuscular disease caused by a pathogenic variant in the acid α-glucosidase gene leading to GAA enzyme deficiency and lysosomal glycogen accumulation. Objectives: This study aimed to determine the prevalence of early onset Pompe disease in Basra, using the dried blood spot (DBS) as a screening tool, also to determine the spectrum of presentation. Materials and Methods: In a prospective study conducted in Basrah, Iraq, from October 2021 to September 2023, all infants with a family member diagnosed as a case of Pompe disease, hypotonia, or ventricular hypertrophy referred to the pediatric cardiology unit in Basra Cardiac Hospital were subjected to echocardiographic examination and assessment of GAA enzyme level, and genetic study by dried blood spot. Results: Thirty patients with confirmed Pompe disease were evaluated (12 males and 18 females), and the mean age of presentation was 3.7 months. The level of CK raged from 123 to 1471 (mean 614.3 ± 247), and the level of GAA activity ranged from 0.0 to 0.3 (mean 0.123 ± 0.07). All infants were homozygous for mutations in GAA. The most commonly encountered mutation was c.1314C>A. Conclusion: Pompe disease is an underestimated disease in Iraq, and the delay in the diagnosis results in established, irreversible myopathic changes even with enzyme replacement therapy and results in high mortality, so a high index of suspicion and early diagnosis will help to provide proper therapy and will help to provide a better quality of life for such patients
Foreign trade is very important in global economies because of its impact on the sustainability of economic growth by stimulating economic activity, creating jobs and expanding production . On the other side , this policy is a major obstacle to many developing countries and the reason is due to the nature of the economies of those countries because they rely mostly on one or a few economic resources, which makes them rely mostly on exports to that resource while they import most of the needs of their local market Which makes them in a spiral of underdevelopment , dependence and economic exposure, which requires them to break that cycle and the launch of economic development Perhaps one of the most important means to a
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Purpose: Providing practical knowledge of the requirements of a detailed feasibility study for selecting the investment project.
Findings: Directing the private sector towards investing in productive projects - the pre-cast reinforced concrete project - as it achieves a financial return as well as providing Providing foreign currencies by reducing imports and exploiting available natural resources
Practical implications: The importance of a detailed feasibility study to determining whether the project can be implemented or not.
The precast concrete method is one of the best modern c
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Abstract
The government spending in Iraq and witnessed the changes and developments, especially after 2003, which outweighed consumer spending at the expense of capital expenditure and increased support and diversity of trends towards improving pension conditions for member
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Social responsibility has achieved tremendous attention by academicians and practitioners to focus on social responsibility accounting. However, many studies around the globe have been conduct to measure the outcomes of social responsibility accounting. This paper presents the impact of applying the supply chain strategy (SCS) on the agribusiness field to optimize productivity and decreasing cost which will have a direct impact on the net income of the organization. The inconclusive results of earlier studies stimulated this research to social responsibility accounting-financial performance. The equivocal results of this phenomenon urge this study to investigate the role of other factors in the relationship of social responsibility accounti
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Abstract
Natural gas is characterized by features that made from it a fuel and a raw material for many industries. Deepening its position as a favorite fossil supplier between other types of fossil fuel is the efficiency, diversity of its uses, low costs and compatibility with the environment which leads to increasing of its uses then increased global demand. So, the natural gas must take its place as an important resource in Iraq and participate the oil in the economic development process of building and financing of the general budget.
Iraq is planning to continue of increasing the export capacity of raw oil to meet ambitious production targets emanating from the mai
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Soil is the cardinal resource for agricultural crops. Healthy soil will produce healthy plants. Since healthy soil is the important goal for the farmers, they need to select the best tillage system to achieve that goal. There are two main types of tillage systems. Conservation tillage (no-tillage farming) uses agricultural machinery that performs a double function; tillage and seed farming simultaneously. In contrast, conventional tillage farming uses multiple agricultural machines to till and seed the soil. The farmers in the northern governorates of Iraq have used the conservation farming system for a long time. However, the farmers who live in the middle and southern governorates in Iraq use conventional tillage farming. Because most of
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The oil exports play a vital role in supporting economic development and raise the economic growth. The oil exports can increase the economic growth via three main channels which are supporting the productive, distributive and service sectors; increasing the investment and capital formation; and increasing the employment rate.
However, the oil exports did not have an important role in increasing the economic growth in Iraq. Therefore, it also did not provide the required support to other economic sectors, neither participated in increase the employees’ skills nor increase the investment rate. It may slightly contribute in enhancement the infrastructure that can attract the public and private investments
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