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 liver is one of the most prominent glands in the digestive system. It crosses vital organs with multiple functions, including the secretion of enzymes, digestion of fats, and secretion of bile. Through histological studies and those interested in them, the tissue structure of the liver is of interest to researchers, and the four samples of Guinea pig Cavia porcellus were taken in this study to know the histological structure and compare it with rodents in particular. and other animals in general. The results of the liver parenchyma were comparable to those of the studied mammals in periods of hepatocytes, Kupffer cells, and sinusoids surrounding the central vein, blood supply, and bile ducts. He did not record differences, eve
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Building Information Modeling (BIM) is becoming a great known established collaboration process in Architecture, Engineering, and Construction (AEC) industry. In various cases in many countries, potential benefits and competitive advantages have been reported. However, despite the potentials and benefits of BIM technologies, it is not applied in the construction sector in Iraq just like many other countries of the world. The purpose of this research is to understand the uses and benefits of BIM for construction projects in Iraq. This purpose has been done by establishing a fr |
The liver is one of the most prominent glands in the digestive system. It crosses vital organs with multiple functions, including the secretion of enzymes, digestion of fats, and secretion of bile. Through histological studies and those interested in them, the tissue structure of the liver is of interest to researchers, and the four samples of Guinea pig Cavia porcellus were taken in this study to know the histological structure and compare it with rodents in particular. and other animals in general. The results of the liver parenchyma were comparable to those of the studied mammals in periods of hepatocytes, Kupffer cells, and sinusoids surrounding the central vein, blood supply, and bile ducts. He did not record differences, eve
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Dust storms are a common ecological occurrence in many world‘s countries, mainly in dry and semi-dry parts. Dust storms tremendously influence human health, the environment, the climate, and numerous social aspects. In this paper, spatial and temporal analysis, metrological triggers, and trajectory, dust exporting areas of a severe dust storm that occurred in Iraq on May 16, 2022, were investigated. The dust storm's backward trajectory was determined using HYSPLIT model, which is then compared with MODIS and Meteosat satellite images. The weather is then analyzed using the NCEP/NCAR Reanalysis model, and the approximate area of these sources was determined using Landsat 8 satellite image classification method. The results revealed
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Background: The aim of the present study is to evaluate the esthetic smile in sample of Iraqi adults and to assess the gender differences. Materials and Methods: 100 persons (50malesand 50 females had class I normal dental and skeletal selected for this study.Clinical examination and digital photograph with posed smile were performed for each individual. Six linear soft tissue parameters in each photograph using AutoCAD program 2011. Five visual and four quantitative evaluations of the smile were studied for eachsubject. The smile arch and index, buccal corridor spaces (BCSs) were studied.Descriptive statistics of the measurements were calculated. Independent student’s ttestswere used to evaluate the gender differences. Statistics: Desc
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The research has discussed the public relations as dependent variable of its branch dimensions( confidence , commitment, control and satisfaction ) and the governmental service quality as independent variable of its branch dimensions (response, dependency, emphasis, tangibility and sympathy), and the research problem has represented by weakness of service quality presented to the customers dealing with company, which is observed via field co-existence of the researcher, where he observe that the quality presented in the company services, are inappropriate with the customers expectations level, also there is weakness of attention and recognition by the
Negotiation is considered as one of the most important kinds of communication in the contemporary organizations, which depend on the important role of managerial information systems in providing necessary and suitable information for success of the negotiation process.
Accordingly, this study aims at measuring the extent of the variables effect of managerial information system in the negotiation process.
To achieve this study, two hypotheses were chosen; the first is the correlation relation and the second is the effect, and statistical means represented by correlation coefficient "Spearman" and (R2) were used.
A Number of conclusions were
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A groundwater quality assessment has been carried out in northeast part of Anbar governorate in western Iraq. We analyzed hydrochemical parameters such as pH, electrical conductivity, total dissolved solids presence of ions to describe groundwater quality. The study area has the only confined aquifer within the geological formation extended in area. Values of groundwater hydrochemical parameters were ranged from (7) to (7.9) for ph, (1599) to (6800) µmhos/cm for electrical conductivity (EC) and (1048) to (4446) mg/l for total dissolved solids (TDS). The origins and types of groundwater in the area were of marine origin and MgCl2 water type while only (6) samples were of continental origin and Na2SO4 wate
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In the present survey 18 species of endo and ecto-parasites were recorded during the examination of 50 Mus musculus (Linnaeus, 1758) among 10 localities in Erbil city, of which 7 species were protozoan and as follows : Chilomastix bettencourti (da Fonseca 1915)82%; Giardia muris (Filice, 1952) 68%; Tritrichomonas muris (Grassi,1879)36%; Entamoeba histolytica (Schaudinn,1903) 24%; Entamoeba coli (Grassi,1879)32%; Eimeria sp. 28% and Trypanosoma musculi (Kendall,1906)2%; and 8 species were helminthes as follows: 4 Cestodes: Rodentolepis nana (von Siebold, 1852) 8%; Hymenolepis diminuta (Rudolphi, 1819)2%; larval stage of Echinococcus granulosus (Batsch, 1786)8%, Cysticercus fasciolaris (Rudolphi, 1808)6%, 4 Nematodes: Aspiculuris tetrapter
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