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
Deception is an inseparable facet of political discourse in attaining strategic political gains though compromising public opinion. However, the employment of discursive deception strategies by the policy-making institutions of think tanks has not received due attention in the literature. The current study aims at exploring how the ideologizing deception strategies are utilized by the conservative American think tank of the Washington Institute to reproduce socio-political realities and re-shape public opinion. To fulfill this task, van Dijk’s (2000) notion of ideological polarization which shows positive self-representation and negative other representation is adopted to conduct a critical discourse analysis of four Arabic texts relea
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The study of history has begun to become increasingly important for those interested in the field of education in general, and physical education and sports sciences in particular. It is a recent study of the past and relying on it. Therefore, studying the history of sports for people with disabilities and their development is of great importance, as it is one of the means to measure the extent of development of societies and their culture in this field. Weightlifting is a sport for people with motor disabilities, and the way to play is for the contestant to lie on the bench (ping bar) and most often the legs are tied to the bench to ensure that the hip and legs do not contribute to the lifting process with the arms, when the player grabs t
... Show MoreThe researcher tackles the most outstanding conditions of experimentation, the importance of the study lies in being helpful to the workers in the field of theatre in general and directors in particular which the conditions of experimentation that should be taken.The study aims at knowing the experimental basis which the director (Sami Abdulhamid) followed in the realization of this.The researcher tackles in the First inquiry the concept of experimentation and the second tackles the conditions of experimentation.In the methodology of study the researcher analyzed the show of the "Othello in the Kitchen" and comes up to the following: 1. the dhows has cone with the nature of the previous shows experienced the methods that were not familia
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The paper discusses the lack of a uniform definition of politeness due to the constant tension between its universality and language specificity, and argues that some of the theoretical debate could be resolved if the distinction between politeness as a commonsense notion and politeness as a theoretical construct were clearly addressed and acknowledged in the research.
In the present study, the aim was made to identify the relationship between thyroid autoimmunity (TAI) and female infertility. The study was performed on 30 infertile women and 22 age-matched healthy fertile control age (33 ± 5 years). Overall, serum prolactin (PRL), thyroid stimulating hormone (TSH) assay is the key test for the diagnosis and management of hypo and hyperthyroidism. Anti-TPO Ab and anti-TG Ab were measured. The mean ± SE of serum PRL (31.080 ± 3.06) ng/ml was significantly (P<0.05) higher in infertile group compared with control (16.191±1.36) ng/ml. Serum TSH was significantly (P<0.05) higher in infertile group (5.689 ± 1.12) µIU/ml compared to control group (2.282 ± 0.18) µIU/ml. The prevalence of positive
... Show MoreCharacterization is commonly known in stylistics to be the cognitive process in the readers' minds when comprehending a fictional character in a literary work .In one approach, it is assumed that characters are the outcome of the interaction between the words in the text on the one hand and the contents of our heads on the other. This paper is an attempt to understand how characterization is achieved by applying Culpeper’s (2001) model which seems to be to present a method of analysis that is more objective and more systematic in analyzing characters. Two characters are selected for discussion; Ralph and Jack from Golding’s (1954) Lord of the Flies. The novel talks about the corruption of human beings and the capacity of evil th
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Receipt date:06/23/2020 accepted date:7/15/2020 Publication date:12/31/2021
This work is licensed under a Creative Commons Attribution 4.0 International License
The executive authority differs from one country to another, as it differs from a federal state to another according to the nature of the applied political systems, so this research focused on federal states according to their political systems, then going into the details of the executive authority and its role In the federal states by referring to the four federal experiments
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Specimens of the hedgehog Hemiechinus auritus Gmelin. which were trapped in two places on the Eastern shores of the Tigris River, some 50 and 60 Km, south of Baghdad. central Iraq. were searched for ectoparasites. They revealed the following parasites: One species of Anoplura: polyplex spinulosa (Burm.), family Hoplople uridae, two species of fleas: Synostrnus pallidus (Tasch.) and Ctenocephalides felis (Bouche), family pulicidae, One mite species: Ornithonyssus bacoti (Hirst), family Macronyssidae and two tick species: Rhipicephalus leporis and R. turanicum family Ixodidae. All these ectoparasite species are new records on this hedgehog in Iraq.