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
Astragalus mesogitanus is a new recorded species for Iraqi flora, from Onobrychium genus section, was collected from Erbil district, all morphological features were described in details as well as some micromorphological character as the trichomes and were provided with dimensions and plates, section key was also updated which illustrated the importance of standard (corolla) trichomes in species identification. Keywords: Astragalus, Fabaceae, Iraq, New record, Onobrychium, Trichomes.
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The study aims to detail the chemistry of Sabkha located in Abu-Graib, western Baghdad to know the content of the rare elements distributed. Sabkhas are found in dry areas with significant evaporation rates. The quantity of dissolved salts rises as water evaporates from the shallow basins, eventually causing salt to crystallize. The creation of the distinctive salt pans and crusts on the top is greatly influenced by this process. The trace elements (Ti, V, Cr, Mn, Ni, Cu, Zn, Ga, As, Se, Rb, Sr, Y, Zr, Nb, Mo, Sn, Ba, Ta, Tl, Pb, Th, U, I, and Br) beside the major oxides were analyzed using XRF technique. There are no clear significant differences in the distribution of the elements between the two Sabkhas in the village of Kadim Al
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The present work provides a list of all amphibians and reptiles recorded from Iraq up to 2014. It includes 115 species (105 species of reptiles and 10 species of amphibians) dating back to 25 families (20 families of reptiles and 5 families of amphibians). Conservation status of each species was mentioned.
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The core idea of this study revolves around the news coverage by Iraqi satellite channels regarding corruption issues and their implications on the public's perception of the political process. The researcher designed a content analysis form encompassing both primary and sub-categories of news bulletins from the channels, Dijlah and Al-Itijah, spanning from 01/06/2021 to 31/08/2021, using a comprehensive enumeration method. The chosen timeframe preceded the parliamentary elections held in October 2021. Employing a descriptive-analytical approach coupled with observation, the researcher derived results that met the study's objectives. Among these findings, news items enhanced with video content topped the categorie
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The present study dealt with taxonomic characters of species Zygophyllum fabago L. in Iraq . this study included the exo-morphological characters which indicated that the species was sub-shrub with solid stem and swallow nodes ,with compound bifoliate and stipulate leaves, the flower is complete and perfect with clawed petals . stamen colored with scaly appendage , fruit capsule with ribs . Anatomical study of vegetative parts indicate that the sclerenchymal tissue was very diffuse in stem such as fibers and sclerides ( stone cells ) , the leaves were bifacial . The geographical distiribution of the species plants was studied . The results supported with photographs
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