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
One of the artificial lightweight aggregates with a wide range of applications is Lightweight Expanded Clay Aggregate. Clay is utilized in the production of light aggregates. Using leftover clay from significant infrastructure development projects to manufacture lightweight aggregates has a favorable environmental impact. This research examines the expanded clay aggregate production process and the impact of processing parameters on its physical and mechanical qualities. It also looks at secondary components that can be used to improve the qualities of concrete with expanded clay aggregates. The effect of the quantity of expanded clay aggregate on the fresh, hardened, and durability qualities of concrete is also studied.
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Marriage is a holly secret in Christian religion .So it id natural that its ceremonies acquired religious form .In general the marriage is contracted by minister of religion in presence of the two parties or by a proxy or presence of parents if it is necessary . And to make the condition of publicity for the marriage ,its procedures must be made before witnesses .Also the minister of religionhave to confirm the agreement of the two parties before beginning the procedures.The marriage ceremonies are made.These procedures are religious traditions that includes praying and make blessings and putting the rings in fingers by thepriest . The marriage is a holly secret performed by the crown pray according to the church religious traditions
The present study aims at analyzing the polysemy of the English preposition in from the cognitive linguistic (CL) point of view using Evans' and Tyler's approach (2003). The perplexity faced by Iraqi second language learners (L2) due to the multi-usages of this preposition has motivated the researcher to conduct this study. Seventy-six second year university students participated in this experimental study. The data of the pre-test and post-test were analyzed by SPSS statistical editor. The results have shown the following: First, a progress of more than (0.05≤) has been detected as far as students' understanding of the multiple usages of the preposition in is concerned. Second, the results of the questionnaire have s
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This paper investigates the interaction between fiscal and monetary policy in Iraq after 2003 using the prisoner’s dilemma.The paper aims to determine the best form of coordination between these policies to achieve their goals; payoff matrix for both policies was constructed. To achieve the purpose, the quantitative approach was applied using several methods, including regression, building payoff matrices and decision analysis using a number of software.The results of the monetary policy payment function show that inflation rate has an inverse relationship with the auctions of selling foreign currency and a positive relationship with the government’s activity, while the fiscal policy function shows that real growth is positively
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Abstract
Public debt has posed a major challenge to both developing and developed countries, which has focused attention on the optimal limits (threshold of debt) and its determinants.
The study examines the effect of the Public bank debt on the foreign reserves and the work of the foreign reserve as a limitation on the process of bank debt (part of the internal debt) for the period (2017-2004), in addition to finding the type and nature of the relationship between them according to the hypotheses of the study, Public bank debt and foreign reserves.
The study was based on data from the Iraqi banking sector, which showed that Iraq has a foreign reserve in line with internat
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Expansion the engineering consultancy offices in the universities of Iraq, about (14) offices, leading to increas the competition between them, especially after the great trends of Iraqi government agencies to use the academic experiences and their efficiencies in general, due to non-existence of the engineering qualification in the government institutions to do the engineering designs ,supervision of projects and other engineering works which are practicing by the engineering consultancy offices in order to get the best performance of the work.Within this serious competition, needing a specific approach to enable government agencies to choose the optimal and alternative consultancy office to meet specific project and not rely on cronyis
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