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
Soil is a crucial component of environment. Total soil analysis may give information about possible enrichment of the soil with heavy metals. Heavy metals, potentially contaminate soils, may have been dumped on the ground. chromium, nickel and cadmium,
Nosocomial infections (NIs) are hospital-acquired associated infections, and also contracted due to the infections or toxins that exist in some location, like hospital. Therefore in our study, 4 Lactic acid bacteria (LAB) isolates were obtained from dairy product (Lactobacillus brevis, L. acidophilus, Lactococcus raffinolactis and Lactococcus lactis) and were tested for Bacteriocin production to select Lactococcus lactis among them. Cell free supernatant (CFS), Lipid and partial purification of protein La. Lactis had high inhibitory effect against test pathogens (E. coli, Bacillus cereus, Staphylococcus aureus and Streptococcus). 30 isolates that diagnosed by Vitec, were isol
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Background: CYP1A1 gene polymorphisms and tobacco smoking are among several risk factors for various types of cancers, but their influence on breast cancer remains controversial. We analyzed the possible association of CYP1A1 gene polymorphisms and tobacco smoking-related breast cancer in women from Iraq. Materials and methods: In this case-control study, gene polymorphism of CYP1A1 gene (CYP1A1m1, T6235C and CYP1A1m2, A4889G) of 199 histologically verified breast cancer patients' and 160 cancer-free control women's specimens were performed by using PCR-based restriction fragment length polymorphism. Results: Three genotype frequencies (TT, TC, and CC) of CYP1A1m1T/C appeared in 16.1, 29.6, and 54.3% of women with breast cancer, respectiv
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Abstract:
Investment in human capital of renewable energy can be relied upon to get to achieve the goals of development is important for Iraq through the intellectual community cards creative able to innovate and develop what is so is study the effect of human investment on economic growth through the adoption of the index of national income as a function of variables independent ( human capital, physical capital) and this is built on the premise that the relationship direct correlation between economic growth and human investment, and it can measure the return on human investment, which is an incentive to increase human capital through education and the development of the economy in general have shown th
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The imbalances and economic problems which it face the countries, it is a result of international economic developments or changes or global crises such as deterioration in trade, sharp changes in oil prices, increasing global indebtedness, sharp changes in foreign exchange rates and other changes, all that, they affect the economic features of any country. and These influences vary from one country to another according to the rigidity of its economy and its potential in maneuvering with economic plans and actions that would reduce the impact or avoidance with minimal damage. Therefore, the countries that suffer from accumulated economic problems as a result of mismanagement and poor planning or suffe
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The present study included the physico-chemical parameters of Lesser-Zab river and its effects on Tigris river. Monthly water samples were taken from the two rivers during January to October 1999.There were no signifcant difference in water temperatures. Both rivers were fresh to oligohalin, alkaline and very hard. Close values were determined in total suspended solids in both rivers with little increasing during rainfall period and high discharge. Water was well areated and over saturation was recorded in several occasions. Dissolved oxygen values of Tigris river were influenced by Lesser-Zab. Cations were more dominant than anions in both rivers. In Lesser-Zab, the anions were increased during spring season and declined in summer which t
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