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
This research aims at making a comparative survey between the dry season in (2017-2018) and the wet season (2018-2019) in Iraq concerning the variation of rainfall and pressure systems responsible for such a difference. In this paper, seven climatological stations have been selected: Mosul, Kirkuk, Khanaqin, Baghdad, Rutba, Diwaniyah and Basra. Results have shown that the first category of rainfall of the two seasons has recorded a higher number of rainy days in comparison with the second and third categories with a total of 274 day in a dry season and 403 day of a wet season. Further, the total amount of the annual continuous rain is higher than the total of thunderstorms in a dry season as well as in the
... Show MoreThe influence of culture on accounting systems and practices, including financial reports and accounting information through the values identified by Gray and derived from social-cultural values, and the four accounting values were derived from generally accepted accounting principles represented by (Conservatism, Uniformity, Secrecy, and Professionalism). Important and significant in maximizing financial performance, and measuring the extent of the role of these values in improving financial performance through attention to the values of accounting culture, this research
... Show MoreAmong a collection of leafhoppers from Erbil Province in Kurdistan/Iraq, a new species of the genus Arboridia Zakhvatkin, 1946 was designated and described here as a new species to the science. The erection of this species was mainly built on the external characters included the male genitalia. Sites and dates of collections so as the host-plants were verified.
إنّ التّأمّل في الدّراسات الأدبيّة النّقديّة الحديثة الّتي تنظر إلى النّصّ أنّه لوحة تتشكّل من مجموعة تداخلات نصّيّة سابقة للنصّ المُنتج أو مُعاصرة له، تدفع القارئ إلى الغوص في أعماق النّصوص وتحليلها والكشف عن الآليّات والإجراءات الّتي اعتمدت في إنتاجه، وإظهار الجماليّات الفنّيّة التي شكلت في مُجملها كائنا حيّا يُعبّر عن حالات إنسانيّة مُستمرة الحدوث رغم تقادم الأزمان.
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... Show MoreThe relationship between pollution levels in river sediment and fluctuating asymmetry of resident silurid fish species,