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 present study introduces description of new species of leafhopper Cicadella latreilla nov. External morphological characters particularly female genitalia were discussed and illustrated, shape of male abdominal apodeme, chaetotaxy of genital style and genital plate of male genitalia, shape of Aedeagus and connective . The external morphological characters were: spotting patterns of vertex, face, pronotum of prothorax, and metothorax, and of lower and upper valves of ovipositors,shape of female seventh abdominasternum.
The objective of this study is to determine the sources of growth of the cement industry in Iraq for the period 1990-2014 and to indicate the nature of the technological progress used in it. To achieve this objective we have built an econometric model, by adapting the production function constant elasticity for substitution, using multiple regression, and enforcement, SPSS program, and using the ordinary least squares method (OLS). The results showed that quantitative factors (labour and capital) are the main sources of growth the cement industry in Iraq, and the qualitative factors (technological progress) did not contribute effectively to achieve this growth. And that the production techniques adopted in the cement industry in
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The achievement of economic and social welfare for individual is the main target to all policies that adopted by all countries worldwide either were economic, social, political or others. The obtaining of education by individuals and especially the higher education is one of the most important determinates in achieving the wellbeing and lasted economic development. This is because via the higher education new fields can be opened in front of individuals in order to get adequate jobs associated with their scientific specialization. This is allowing educated individuals gain higher income that can reduce the gap of income inequality.
Thus, this paper aims to analysis the n
... Show MoreThe current study included a detail morphological study of all parts of the species Ipomoea carnea Jacq. (Convolvulaceae) cultivated in different gardens, the roots, stems, leaves, flowers and fruit were studied in detail, also the pollen grains were studied and there are photographs for all the parts were putted.
The present study is concerned with Biostratigraphy of the Early-Middle Miocene outcrops of Jeribe Formation in the Zurbatiyah area, Wasit Governorate, Eastern Iraq. Forty-two Samples collected from Shur Sharin and AL-Hashima outcrop sections. The fossil content is rich in large and small benthic foraminifera; Twenty-one species and genus are identified in this study, in addition to coral, gastropoda, pelecypoda, ostracoda, alge, echinoid and shell fragments. According to the presence of benthic foraminifera, two Biozone have been identified in the Jeribe: Austrotrillina asmariensis-Dendritina rangi Concurrent Zone and Borelis melo curdica range zone.The age of the Formation determined as Early-Middle Miocene depending on these Bioz
... Show MoreThree Spirurid nematodes: Amidostomoides acutum (Lundahl,1848) Seurat, 1918, Epomidiostomum uncinatum (Lundahl,1848) Seurat, 1918 and Tetrameres sp. Creplin,1846 were isolated from the stomach (provenrticulus and gizzard) of the shoveler Anas clypeata from central Iraq. A brief description, morphometric and meristic characters for the nematodes were provided.Incidence of the three nematodes discussed with pertinent literatures.
The electric energy is one of the most important renewable energies used in the world as it is the main source for sustainable development and economic development through its use in (production, transport and distribution), and in Iraq, the electric power sector has suffered from many problems and obstacles, as providing electric current is one of the most prominent difficulties and challenges That successive governments and residents have faced since the early nineties of the last century and are still ongoing, and that Iraq has all the climatic conditions for developing the work of the electricity system from renewable energies such as solar and hydroelectric energy, as well as gas fields that have become a Basic pillar of pow
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