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
Phytoplankton community is a model for of monitoring aquatic systems and interpreting the environmental change in aquatic systems. The present study aimed to forecast environmental parameters that drive the change of phytoplankton community structure in the lake. The present study was carried out in Baghdad Tourist Island Lake (BTIL) for the period From October 2021 to May 2022. The study included the quality and quantity of phytoplankton, moreover, the highest and lowest value of the physical and chemical parameters were (Water temperature (13-30 °C), Light penetration (94-275cm), electric conductivity (837-1128 µS/cm), salinity (0.5-0.7 ‰), pH (7-8.2), total alkalinity (126-226 mg CaCO3/L), total Hardness (297-395 mg CaCO3/L
... Show MoreThe present study aims to present a proposed realistic and comprehensive cyber strategy for the Communications Directorate for the next five years (2022-2026) based on the extent of application and documentation of cybersecurity measures in the Directorate and the scientific bases formulating the strategy. The present study is significant in that it provides an accurate diagnosis of the capabilities of the cyber directorate in terms of strengths and weaknesses in its internal environment and the opportunities and threats that surround it in the external environment, based on the results of the assessment of the reality of cybersecurity according to the global Cybersecurity index, which provides a strong basis for building its strategic dire
... Show MoreReservoir quality assessment is important for detecting hydrocarbon-bearing zones and guiding future enhancement strategies. This study presents a detailed petrophysical evaluation of the Mishrif Formation in the Buzurgan Oilfield, which was selected due to its strategic value through its significant remaining reserves which making it an ideal candidate for advanced evaluation techniques. This study aims for shale content, porosity, permeability, water saturation, net to gross, and lithology determination. Well log and core data were used together to establish accurate property estimations. Permeability prediction through conventional methods, like core permeability-porosity correlations, was highly dispersive due to the heterogenei
... Show MoreThe problem of job burnout has become one of the main problems for researchers in social welfare organizations (social protection bodies) - one of the formations of the Ministry of Labor and Social Affairs. Its negative effects increased in light of the COVID-19 pandemic, and in light of the Corona pandemic, the pressures and burdens of workers varied, which resulted in high rates of anxiety, tension, and intellectual and physical exhaustion, and then negatively affected their efficiency in performing work at the individual and organizational level, especially after the increasing tasks of these Bodies in carrying out their role in achieving the general goals and objectives as beingThe general goals are that they are responsible for providi
... Show MoreThis study aims to identify the role of forensic accounting in resolving banking disputes in the Iraqi environment, and to achieve this goal, the fiel
d survey method was used, as it is the most appropriate for studying the phenomenon in question and achieving its objectives. A sample of (50) male and female employees was selected, distributed among five banks listed on the Iraq Stock Exchange in the Baghdad governorate. The questionnaire tool prepared for this purpose was applied to them, which consisted of two main axes. The first axis included paragraphs of questions related to the importance of forensic accounting. The second axis relates to disputes At the end of the research, we reached a set of conclusions, the most import
... Show MoreTwo field experiments were conducted during the season 2021-2022 in central Iraq represented by the Al-Muthanna governorate - Al-Majd District and Al-Qadisiyah governorate / Al-Nouriah Research Station to determine the productivity of the Baghdad 3 cultivar from spray foliar fertilization of Macro and Micro elements with alcoholic sugars and half the fertilizer recommendation for addition floor, three treatments were used for fertilization: T1 as the control treatment and T2 with alcoholic sugar fertilization at a concentration of 20 g.L-1 + the fertilizer combination of Macro and Micro elements, and T3 with alcoholic sugar fertilization at a concentration of 40 g.L-1 + the fertilizer combination of Macro and Microelements, at irrigation 55
... Show MoreBACKGROUND: Genetic skeletal abnormalities are a heterogeneous group of genetic disorders frequently presenting with disproportionate short stature. AIM OF THE STUDY: To give an idea about the frequency of genetic skeletal abnormalities, and to find out whether these disorders are really increasing in the last 16 years or not. METHODS: During the period extending from (Jan, 1st 2003-April, 1st 2007), all cases of genetic skeletal disorders referred to the Genetic Counseling Clinic, Medical City – Baghdad who were born after 1991 were included in this study as the post-war group; the pre-war group, included all cases of skeletal disorders referred prior to 1991 (Jan., 1st 1987-Jan., 1st 1990). The demographic parameters, family history of
... Show MoreTHE ROLE OF ELECTRONIC-PAYMENT SERVICE PROVIDERS IN THE DEVELOPMENT OF E-BANKING IN IRAQ - AN APPLIED RESEARCH IN CENTRAL BANK OF IRAQ
The aim of the research is to test the effect of outsourcing human resources activities (independent variable) with its dimensions (outsourcing of staffing, outsourcing of training and development, outsourcing of wages and compensation, outsourcing of human resources information systems) on organizational winning (dependent variable) with its dimensions (the culture of winning, successful organizational change, continuous improvement, and adoption of risk). The research problem was the questions posed by the researcher, the most important of which is the extent to which the research sample realizes the importance of applying outsourcing to human resources activities and its role in organizational vi
... Show More