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
Literature on the use of the first-person pronoun in abstracts and conclusion sections of final-year projects is limited. In case of Algerian Master students, it is too scant. The present paper aims at filling this gap through a study concerned with students’ and engagement in their final projects (memoirs). This quantitative study examines the use of “we” and its various types, “our- us-I, my, the researcher” in memoirs chosen at random from the d-space portal of the University of Adrar, southern Algeria. Sixty-five papers, submitted in the fields of Linguistics or didactics between 2015 and 2020 and representing nearly half of the whole memoirs’ depository at the library’s d-space, constituted the corpus of study. The des
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To investigate the effects of losartan and enalapril on serum uric acid in hypertensive patients with metabolic syndrome, one hundred and twenty six newly diagnosed mild hypertensive patients, having markers of metabolic syndrome included in the study. The patients were divided into two groups. Group 1 (60 patients) was given losartan (50 mg/ day) and group 2 (66 patients) enalapril (20 mg/ day) for a duration of 2 months. A control group of seventy apparently healthy individuals were included. Metabolic syndrome was diagnosed according to diagnostic criteria of metabolic syndrome related to the American National Cholesterol Education Program-Adult Treatment Panel III. Serum uric acid levels were measured bef
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Based on the results of standard penetration tests (SPTs) conducted in Al-Basrah governorate, this research aims to present thematic maps and equations for estimating the bearing capacity of driven piles having several lengths. The work includes drilling 135 boreholes to a depth of 10 m below the existing ground level and three standard penetration tests (SPT) at depths of 1.5, 6, and 9.5 m were conducted in each borehole. MATLAB software and corrected SPT values were used to determine the bearing capacity of driven piles in Al-Basrah. Several-order interpolation polynomials are suggested to estimate the bearing capacity of driven piles, but the first-order polynomial is considered the most straightforward. Furthermore, the root means squar
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Seven fish species were collected from the drainage network at Al-Madaen region, south of
Baghdad with the aid of a cast net during the period from March to August 1993. These fishes
were infected with 22 parasite species (seven sporozoans, three ciliated protozoans, seven
monogeneans, two nematodes, one acanthocephalan and two crustaceans) and one fungus
species. Among such parasites, Chloromyxum wardi and Cystidicola sp. are reported here for
the first time in Iraq. In addition, 11 new host records are added to the list of parasites of
fishes of Iraq.
The research attempts to diagnose the level of the effect of human resources flexibility (employees skills flexibility, employees behaviors flexibility, and human resource practice flexibility) in the south al-rusafa directorate of a power station one of the formations and the Ministry of Electricity, and impact of a range of variables related to the performance operational, namely, (efficiency, effectiveness)recognizing the importance of the subjects studied,& because of the importance of expected results of the field under consideration,researcher selected a sample of size (121) engineers and technicians of workers in the directorate. Was my hypotheses the major search of a relationship and impact between human resources flex
... Show MoreThis is an empirical investigation of the tribal power in Iraq and its consequences on the socio-political system. A theoretical background concerning thestate kinship, tribe and tribal involvement in politics has been displayed with example of tribal power over people within the social context. Socio-anthropological method of data collection has been used, including a semi-structured interview with a sample of 120 correspondents. The outcome revealed that the feeble and corrupted state (government) play a vital role in encouraging the tribe to be dominant. The people of Iraq are clinging to the tribe regardless of whether they believe in it or not. Although they are aware that the tribe is a pre-state organisation and marred shape of ci
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The South Baghdad electrical station located on the eastern bank of the Tigris River south of Baghdad city was selected within the municipality of Karrada between two latitude ( 330 15 , 33 0 18 )North and longitude ( 44 0 27 , 44 030 ) East . The purpose of the study is to determine the contribution of the station to the effect of pollution of the Tigris water by taking water samples at the station site and two sites, one before and the other after the station, distributed over time periods of three months between each sample of water and the beginning of August and November Shabat and Mayar and analyzed water samples physically, chemically and biologic
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