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
Abstract
Documentary credits are considered successful means to reduce imports, especially unnecessary imports that lead to the outflow of foreign currency from the country. However, due to the backwardness of the banking methods, the reintroduction of documentary credits after 2003 did not effectively contribute to reducing import rates. This has had a negative impact on the Iraqi economy and made it vulnerable to external markets. Documentary credits are also considered the best way to ensure payment in international trade, providing independent credit support and sufficient security for exporters and importers against commerci
... Show MoreThis study was conducted to examine the anatomical aspects of
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Countries have faced the challenges of high levels of public debt and seek to define the optimum limits to reduce risks to which the financial system can be exposed and its impact on the economy as a whole. Hence the importance of research in studying the impact of internal and external public debt components on indicators of stability of the financial system for the period 2005-2017 for the purpose of knowing the extent of the financial stability indicators response to the high level of the public debt from its optimum ratio, as the aim of the research is to estimate and analyze the dynamic relationship of short and long term between the components of public debt and indicators of financial stability using the (ARDL) model that
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This research deals with the study of the obstacles to peaceful coexistence in Iraq. Therefore, our hypothesis is that these obstacles are not attributed to one reason or to one source. Therefore, peaceful coexistence among the components of Iraqi society remains fragile and vulnerable to collapse and threat at any moment. This society, which is already in need of social relations, needs more than ever to coexist and consolidate it. Through the exercise of democracy in Iraq in a manner that guarantees rights and duties for all, to restore mutual trust between the components of this community in a way that feels they are citizens of the state.
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This paper presents a statistical study for a suitable distribution of rainfall in the provinces of Iraq
Using two types of distributions for the period (2005-2015). The researcher suggested log normal distribution, Mixed exponential distribution of each rovince were tested with the distributions to determine the optimal distribution of rainfall in Iraq. The distribution will be selected on the basis of minimum standards produced some goodness of fit tests, which are to determine
Akaike (CAIC), Bayesian Akaike (BIC), Akaike (AIC). It has been applied to distributions to find the right distribution of the data of rainfall in the provinces of Iraq was used (maximu
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Economists agree upon the importance of exports and their positive impacts on the economic variables. Therefore، they studied policies encouraging exports and set out the instrumentalities supporting them. These instrumentalities included a combination of fiscal، monetary، commercial، production policies like the tax policy that is encouraging to the exports، exchange rates reduction، establishing commercial free zones، better production quality، fostering investment climate، and preparation of the necessary financing before the exporting process and afterwards.
This research is interested in the finding aspect amongst the instrumentalities encouraging exports which is parallel t
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Iraq is considered the origin of civilization first colonies have been cited in its northern parts , when the first attempt in agriculture and animal breeding were began ,and the cave , were taken as houses. That time the first agricultural colony were colonized in Kirkuk and Mussel . There colonies have been developed to be villages which had another activities in addition to the main activity which was agriculture . The distribution without any administrative planning . Lately , the stochastic distribution starting to disappear due to the planning of cities and their to rural surrounding. This study is involved in the analysis of the patterns of the location distribution of the villages , and the form that taken by the village
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