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
Abstract
Background: The novel coronavirus 2 (SARS?CoV?2) pandemic is a pulmonary disease, which leads to cardiac, hematologic, and renal complications. Anticoagulants are used for COVID-19 infected patients because the infection increases the risk of thrombosis. The world health organization (WHO), recommend prophylaxis dose of anticoagulants: (Enoxaparin or unfractionated Heparin for hospitalized patients with COVID-19 disease. This has created an urgent need to identify effective medications for COVID-19 prevention and treatment. The value of COVID-19 treatments is affected by cost-effectiveness analysis (CEA) to inform relative value and how to best maximize social welfare through eviden
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Abstract Background: The novel coronavirus 2 (SARS?CoV?2) pandemic is a pulmonary disease, which leads to cardiac, hematologic, and renal complications. Anticoagulants are used for COVID-19 infected patients because the infection increases the risk of thrombosis. The world health organization (WHO), recommend prophylaxis dose of anticoagulants: (Enoxaparin or unfractionated Heparin for hospitalized patients with COVID-19 disease. This has created an urgent need to identify effective medications for COVID-19 prevention and treatment. The value of COVID-19 treatments is affected by cost-effectiveness analysis (CEA) to inform relative value and how to best maximize social welfare through evidence-based pricing decisions. O
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The OpenStreetMap (OSM) project aims to establish a free geospatial database for the entire world which is editable by international volunteers. The OSM database contains a wide range of different types of geographical data and characteristics, including highways, buildings, and land use regions. The varying scientific backgrounds of the volunteers can affect the quality of the spatial data that is produced and shared on the internet as an OSM dataset. This study aims to compare the completeness and attribute accuracy of the OSM road networks with the data supplied by a digitizing process for areas in the Baghdad and Thi-Qar governorates. The analyses are primarily based on calculating the portion of the commission (extr
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A total of 45 voucher specimens of falcons which are deposited in the bird's collection of the Iraq Natural History Research Center and Museum (INHM) were reviewed. Mummified falcons were preserved as voucher study specimens and tagged with museum collection labels. In the current study, morphometrics of six species of the genus Falco Linnaeus, 1758: Lanner falcon F. biarmicus Temminck, 1825; Sacker Falcon F. cherrug Gray, 1834; Lesser Kestrel F. naumanni Fleischer, 1818; Peregrine Falcon F. peregrines Tunstall, 1771; Eurasian Hobby F. subbuteo Linnaeus, 1758 and Common Kestrel F. tinnunculus Linnaeus, 1758 were documented.
These species were recorded previously in the ornithological literatures by several authors and deposited in the
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The OpenStreetMap (OSM) project aims to establish a free geospatial database for the entire world which is editable by international volunteers. The OSM database contains a wide range of different types of geographical data and characteristics, including highways, buildings, and land use regions. The varying scientific backgrounds of the volunteers can affect the quality of the spatial data that is produced and shared on the internet as an OSM dataset. This study aims to compare the completeness and attribute accuracy of the OSM road networks with the data supplied by a digitizing process for areas in the Baghdad and Thi-Qar governorates. The analyses are primarily based on calculating the portion of the commission (extra road) and
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A total of 45 voucher specimens of falcons which are deposited in the bird's collection of the Iraq Natural History Research Center and Museum (INHM) were reviewed. Mummified falcons were preserved as voucher study specimens and tagged with museum collection labels. In the current study, morphometrics of six species of the genus Falco Linnaeus, 1758: Lanner falcon F. biarmicus Temminck, 1825; Sacker Falcon F. cherrug Gray, 1834; Lesser Kestrel F. naumanni Fleischer, 1818; Peregrine Falcon F. peregrines Tunstall, 1771; Eurasian Hobby F. subbuteo Linnaeus, 1758 and Common Kestrel F. tinnunculus Linnaeus, 1758 were documented. These species were recorded previously in the ornithological literatures by several authors and deposited in t
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A total of 45 voucher specimens of falcons which are deposited in the bird's collection of the Iraq Natural History Research Center and Museum (INHM) were reviewed. Mummified falcons were preserved as voucher study specimens and tagged with museum collection labels. In the current study, morphometrics of six species of the genus Falco Linnaeus, 1758: Lanner falcon F. biarmicus Temminck, 1825; Sacker Falcon F. cherrug Gray, 1834; Lesser Kestrel F. naumanni Fleischer, 1818; Peregrine Falcon F. peregrines Tunstall, 1771; Eurasian Hobby F. subbuteo Linnaeus, 1758 and Common Kestrel F. tinnunculus Linnaeus, 1758 were documented. These species were recorded previously in the ornithological literatures by several authors and deposited in t
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In this research we been estimated the survival function for data suffer from the disturbances and confusion of Iraq Household Socio-Economic Survey: IHSES II 2012 , to data from a five-year age groups follow the distribution of the Generalized Gamma: GG. It had been used two methods for the purposes of estimating and fitting which is the way the Principle of Maximizing Entropy: POME, and method of booting to nonparametric smoothing function for Kernel, to overcome the mathematical problems plaguing integrals contained in this distribution in particular of the integration of the incomplete gamma function, along with the use of traditional way in which is the Maximum Likelihood: ML. Where the comparison on the basis of the method of the Cen
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