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
This research aims to identify the relationship and the impact of the behavior of organizational citizenship in the performance of employees, as practiced behaviors organizational citizenship substantial role in achieving the objectives of both the organization and its staff at the same time, so it affects a large extent on the characteristics and performance of individuals employees and thus influence the success of the organization as a whole, problem of the research has indicated that there is a clear failure in the study of the impact of the behavior of organizational citizenship in the performance of employees, was chosen
Most countries in the world particularly developing countries, including Iraq, facing extremely dangerous problem with social and political dimensions, which is the emergence of the food crisis problem ,the decrease in domestic food production in Iraq isn't meet the needs of its population food, due to the fact that the agricultural sector suffers from multiple natural ,economic and human problems .It is still below the level required to meet the needs of the population of food ,since food at the forefront of priorities needed by the human . This represents indispensable basic necessity , so the responsibility of its availability permanently in appropriate&nb
... Show MoreThe treasury bills one internal government debt instruments in iraq that were used to finance temporary deficits in the government budget, There fore the government resorted to issuing for the purpose of providing liquidity, As well as to invest in productive progects, After that it was financing the budget deficit by the monetary authovity of the central baalpennek [the new cash velease] which led to negative effects on the Iraqi econome, Thus we find that the treasury transfers have formed alarge proportion of the gross domestic government debt to finance the deficit ayear ago 2003. &nbs
... Show MoreThe objective of this research is to determine the relationship between the performance evaluation process and the training programs for the employees, to identify the extent of the organization's commitment to perform the performance evaluation process for its employees and to use the results of this process in determining the appropriate training programs. Performance evaluation, functional analysis, evaluation method used, dependent variable (training programs) and its dimensions, type of programs, program objectives, program curriculum, And the application of the field research methodology and the questionnaire, which included 146 individuals to know their views and analyz
... Show MoreAntimicrobial resistance (AMR) is a serious challenge for infectious disease prevention and treatment, according to the World Health Organization. It is a worldwide problem caused primarily by inappropriate and insufficient therapy, misuse of antimicrobials without physician supervision, unnecessary hospital readmissions, and other factors. AMR has several consequences, including increased medical costs and mortality. The present study aimed to evaluate imipenem resistance in gram-negative bacteria in Central Pediatric Teaching Hospital in Baghdad, Iraq, and determine this bacteria resistance in different samples. Initially, a total of 100 different samples were collected from child patients from October 1, 2020, to August 31, 2021. Each is
... Show MoreAs the banking sector is a strong influence on the country's economic growth,The solid financial well-being of anybank does not mean only a guarantee for its investors, It is also important for both owners and workers and for theeconomy in all its joints.The elements of capital adequacy and quality of assets are important to the functioning of thebanking business.In this study, the research sample included four private banks. Quarterly data were used for the period(2011 - 2018).Moreover, data is also collected from articles, papers, the World Wide Web (the Internet) and specializedinternational journals.In this research, an effort was made to try to find out the effect of (the ratio of the capital owned todeposits on the value of the bank),
... Show MoreThe aim of this research is analysis the effect of the changes in (GDA, g, inflation) at average and standard economic curriculum in composition of the models, depending on SPSS program in analysis, and according to available date from central bank of Iraq and during the period from 2003 to 2018 and by using OLS and estimate of the equation and the results showed a statistical significance relation in incorporeal level 5% and the R2 value equal to 92.1 refer to the changes in independent variables explain 92% of changes of unemployment and the independent variables effect are very limit depend on estimated parameters in the model and respectively (0.986,0.229,-0.060), the research recommended necessity to active the inve
... Show MoreThe research studies the main variables for the concept of sharing in knowledge in one of the most important control agencies in Iraq, which is (The Federal Board of Supreme Audit). Also, the quality of the controlling businesses by the Board in light of the major challenges that facing the fight against signs of cheating and administrative and financial corruption for offices submitted to controlled and auditing, with the increasing and intensification of these appearances. In order to enable the Board to cope with this situation, has to be thinking hard about how to achieve excellence, progress and development to face these situations, through the application of sharing in knowledge for the financial controller, and then achiev
... Show MoreBackground Type two diabetes (T2DM) is characterized by insufficient insulin production and secretion. Additionally, the body develops insulin resistance which affects 90–95% of diabetics. Complex cytokines, receptors, genetic pathways, and the immune system are involved in T2DM. Interleukin-18 (IL-18) is one of the inflammatory cytokines associated with Type 2 diabetes. Environmental and genetic variables, including genetic polymorphisms, can increase T2DM risk and its consequences. Single nucleotide gene polymorphisms (SNPs) are important risk factors for diabetes that can be used to find the disease early and treat it better. Objective This study aimed to determine the levels of IL-18 in the serum of Iraqi patients with Type 2 diabetes
... Show MoreThe Tulostoma genus, known as stalkballs or stalked puffballs, belongs to the Agaricaceae family. This study was designed to identify an unknown fungal species collected from the Al‐Dujail district in Iraq based on morphological examination and molecular analysis of the internal transcribed spacer (ITS) region. Between April and July 2019, samples were collected from garden soil in the Al‐Dujail district, Salah Al‐Din Governorate, Iraq. Morphological characteristics were documented using light microscopy. Genomic DNA was extracted and purified, and the ITS region was amplified using conventional PCR with specific primers. The amplified products were sequenced, and phylogenetic analysis was conducted using MEGA11 software. Morp
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