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
The aim of the research is to identify the extent of the ability to ensure the integrated reports by the auditor in verifying the credibility of these reports, and their implications for the benefit of all parties dealing with the economic unit, as well as measuring the impact of the assurance procedures followed by the auditors and their role in confirming these reports.
The research methodology was designed after studying the previous literature related to the research variables, and then the relationship between these variables was tested, through the use of a questionnaire list. A questionnaire targeting the community of auditors in the local environment, and the results of the study wer
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This research attempts to shed light on a topic that is considered one of the most important topics of HRMs management, which is the Employee centric approach by examining its philosophy and understanding . To achieve the goal, the research relied on the philosophical analytical method, which is one of the approaches used in theoretical studies. The research reached a set of conclusions, the most important of which are the theoretical studies that addressed this entry in the English language and the lack of it in the Arabic language, according to the researcher's knowledge. The research reached a set of recommendations, the most important of which was that this approach needs more research, analysis and study at the practical and th
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This study came to discuss the subject of industries dependent on petrochemical industries in Iraq (plastic as a model) during the period 2005–2020, and the study concluded that the plastic industries contribute to areas of advancement and progress and opportunities to deal efficiently with the challenges posed by the new variables, the most important of which is the information revolution. communications and trade liberalization, and this is what contributes to the competitiveness of these industries. And because the petrochemical industry in Iraq has an active role in establishing plastic industrial clusters and clusters of micro, small, and medium industries by providing the necessary feedstock for these industries in various fields
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???? ?? ??? ????? ???? ?????? ?????????? ????? ??????? ???? ?????? ????? ??? ??? ????? ?? ???? ??? ????? ????? ???? ????? ????? ?? 0-3cm, 10cm, 20cm, 30cm, 40cm ???????? ????? ?? ???? ????? ???????? ?? ???? ????? ?????? CR-39??????? ?? ??? ??? ?????????? ???????????? ???????? ???? n.cm-2.s-1 5 x 103?? ?????? ?????????? Am241- Be??? ???? ??????? ????????? ??? ?? ???? ????? ?????????? ??? ?? ????? ??????? ?????? 0.881±0.086??? ?? ??????? ????? ??? ????? ??? ?? ????? ????? ??? ???????? ???0.441±0.036 ??? ?? ???????
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Objective: To suggest a weighted measure to diagnose the reasons for the low student success ratios in mathematics concerning the third grade of intermediate schools in light of components educational system represented by: [Students, Teachers, Curriculum, and Environmental reasons (others reasons)] assuming differentiated and interrelated components, Also the effectiveness forming of these components according to the gender variable. Methods: Data collection tools were prepared by constructing two questionnaires for each of (Students and Teachers), which included a number of items that involved some domains for studied components of educational system, which demonstrated a high level of validity and reliability in the pilot study, in addi
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Land snails constitute an important group of mollusks distributed worldwide. This study reports on land snails found in Iraq. A survey of terrestrial gastropods was performed during their activity seasons in gardens, agricultural lands and nurseries in Iraq from March 2022 to September 2023. Fifteen terrestrial snails belonging to seven families were documented. The species Euchondrus michonii (Bourguignat, 1853) was identified and recorded based on several distinct conchological characters for the first time in Iraq. The recently collected specimens, along with those previously recorded in Iraq, were included in this checklist. Essential information on each species is also presented. As there is no previous checklist or study that
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