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
Museum education is of great importance to an appropriate representation of museums’ collections and exhibits, including traditional fashion. Therefore, museum educators/curators need to be equipped with the most essential skills in their profession in order to adequately present the museum’s history and holdings. This could be achieved through specialized training programs. However, Arab countries are still behind in terms of museum education. Therefore, this article aims to shed light on this issue by assessing the knowledge and skills possessed by museum educators/curators and how training programs could affect them
The construction of development is required to develop various economic sectors with the necessity to meet the various requirement of both individuals and institutions , or through the import process , which must be commensurate with the needs of the market and the economy and development. But in fact , we find that the process of import in Iraq after 2003 took a turn dangerous excesses on limits of philosophy and objectives of the import , which is reflected at the level of national production as well as the policy of dumping and given and the lack of matching a lot of goods and materials imported for Standards and Measures of quality and stands behind it causes many of them exposure to the market and weak sectors with an overlap betwee
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Abstract
Due to the momentum of winning in the streets of the city of Baghdad as a result of the large number of checkpoints so felt researcher to conduct a field visit to find out the main reasons that led to this congestion and to find practical solutions to mitigate wastage winning the arrival time citizen to where you want the least possible time.
This research aims to overcome the difficulties experienced by citizens to reach their places of work and reduce waste at the time of service and waiting time as well as reduce the cost of waiting.
Has emerged study a set of conclusions, including the use of model queue (G / G / C) and the mome
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The present paper applies Fanon Psychological reading of the problem of the Black introduced in his book Black Skin White Mask to Crooks, The black Character in John Steinbeck’s Of Mice and Men. The analysis of this character infers three essential points regarding the artistic achievement of the author. First, he uses a fictional character that offers a psychological interpretation of the black problem of alienation and loneliness in a way that does not disgrace the black. Second, he applies Fanon’s way of showing the various attitudes that the black adopts in contact with the white society. Third, he affirms that the black inferiority complex comes as a result of double proc
... Show MoreThe construction of development is required to develop various economic sectors with the necessity to meet the various requirement of both individuals and institutions , or through the import process , which must be commensurate with the needs of the market and the economy and development. But in fact , we found that the process of import in Iraq after 2003 took a turn dangerous excesses on limits of philosophy and objectives of the import , which reflected the level of national production as well as the policy of dumping and given to the lack of matching a lot of goods and materials imported for Standards and Measures of quality and stands behind it causes many of them exposure to the market and weak sectors with an o
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The investment government expenditure is considered the fundamental of enhancing the economic activity as it has become a mean for achieving capital accumulation in all economic sectors, The Iraqi economy is characterized of being yield unilateral depending petroleum revenues as an essential resource of financing government expenditure , as the contribution of petroleum sector in GDP is large in proportions to other economic sectors contribution.
The relationship between investing government expenditure, and non-oil GDP is about to be not existent during the
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Autorías: Hadeer Idan Ghanim, Ishraq Mahmood. Localización: Revista iberoamericana de psicología del ejercicio y el deporte. Nº. 3, 2021. Artículo de Revista en Dialnet.
The research aims to shed light on the impact of the application of the electronic services system on electronic banking activities in a sample of Iraqi banks, as investment in technology is the most important factor for the success and future growth of administrative companies in general, and banking in particular, as global economic developments in the field of Technology has led the majority of banking sectors in the world to undergo deep reforms and radical changes in the entity of their systems and mechanisms to confront competition and keep pace with economic changes, as the concept of banking services and its diversity changed with it, especially since persistence in the traditional approach no longer gi
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