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
Chapter One : the importance of research and the need for it .
He has developed the concept of the curriculum has evolved as other educational concepts . Because the world has become a small village due to modern technology and are used in various aspects of life , and the rapid communication between the world can be accessed easily and conveniently . And that the purpose of education citizens who create social functions which ones to keep the culture , upgrade and repair flaws, and aims to develop the capacity of the individual and the preparations in the footsteps of scientific and technological development .
- The goal of research : The research aims to:
1 . What is the
Requires economic work finding built institutional paint strategies and policies are formulated general economic and clarity in its stated objectives and the involvement of all economic institutions, political and stakeholders to discuss all the issues of economic, financial, monetary and analyzed for the purpose of renewal energies and determine the duties and responsibilities, leaving full freedom to the private sector in the formation of institutions to carry out his duties economic, and that the institutional structures to create the right climate for the implementation of its economic policies, which would facilitate the task of the private sector, and this h
... Show MoreThe covid-19 global pandemic has influenced the day-to-day lives of people across the world. One consequence of this has been significant distortion to the subjective speed at which people feel like time is passing. To date, temporal distortions during covid-19 have mainly been studied in Europe. The current study therefore sought to explore experiences of the passage of time in Iraq. An online questionnaire was used to explore the passage of time during the day, week and the 11 months since the first period of covid-19 restrictions were imposed in Iraq. The questionnaire also measured affective and demographic factors, and task-load. The results showed that distortions to the passage of time were widespread in Iraq. Participants co
... Show MoreThis cross-sectional, questionnaire-based study evaluated the knowledge, attitude and practice towards breast cancer and breast self-examination [BSE] among 387 [302 females and 85 males] educated Iraqis affiliated to 2 Iraqi universities. The participants were categorized into 3 occupations: student [71.3%], teaching staff [10.3%] and administrative staff [18.3%]. About half of the participants had a low knowledge score [< 50%]; only 14.3% were graded as [Good] and above. Almost 75% of the participants believed that the best way to control breast cancer was through early detection and other possible preventive measures. Most participants [90.9%] had heard of BSE, the main source of informatio
... Show MoreAbstract Daily dressing changes cause distress and pain for victims of burn injuries. The study aimed to determine the effect of music in reducing the pain and anxiety of thermally burned children during routine dressing changes. This quantitative study employed a randomized controlled trial design. The participants comprised 80 children at the Specialized Burns Hospital, in Baghdad, Iraq who were divided into two groups. The intervention group were exposed to three generic musical pieces (children’s music, nature sounds, and classical music) for 10-15 minutes. The researchers used the Objective Pain Scale, State-Trait Anxiety Inventory, and physiological parameters to measure the children’s responses immediately before the dressing cha
... Show MoreThe Urban Residential has developed and changed in different periods of time with successive and gradual shifts, as it cast a shadow over the characterization of modern urbanism in Iraq. The semi-total absence of the governing legislation of urbanization as well as the weakness of the State's role of supervisory in addition to neglecting urban heritage contributed in offering a strange environment in relation to its traditional identity. That was increased by the pressure of the using urban environment as a result of the increasing of population as well as the growth of people’s needs. The research aims to provide an objective view for a mechanism of the application of urban legislation to monitor the implementation o
... Show MoreBacterial contamination of AL-Habania reservoir was studied during the period from February 2005 to January 2006; samples were collected from four stations (AL-Warrar, AL-Theban regulator, middle of the reservoir and the fourth was towards AL-Razzaza reservoir). Coliform bacteria, faecal Coliforms, Streptococci, and faecal Streptococci were used as parameters of bacterial contamination in waters through calculating the most probable number. Highest count of Coliform bacteria (1500 cell/100ml) was recorded at AL-Razaza during August, and the lowest count was less than (300 cell/100ml) in the rest of the collection stations for all months. Fecal Coliform bacteria ranged between less than 300 cells/100ml in all stations for all months to 700 c
... Show MoreTax is an important financial resource that the state depends on in all its economic, political, and social fields. Nevertheless, the role of the tax is highlighted in raising tax revenues and influencing economic variables, such as savings, consumption, investment, and employment. The tax was taken as an important tool to stimulate investment in industrial projects because of this activity's important role in raising the efficiency of economic development and reviving the national economy, as many industrial investment laws were enacted and the most important thing included was exempting industrial projects from all taxes and fees (5-10) years, and an exemption Profits from income tax for a period of 5 years starting from the year in which
... Show MoreThat the nature of an important role in children's lives, Including offer them fun and freedom of thinking and capacity in the imagination. And its effective role of poets in general and especially apoet of childhood Selecting from diverse elements, And the rise to the level of human nature In order to enrich the child's imagination And the delivery of various ideas and information in a surprising. And are far from the decision-making and direct screed.this importance we set off For the study of poetic texts for children in Iraq During the research stage. Those texts in which the humanization began clearly,and our offer to these texts in style of detail and precision Not without expressing an my opinion during the research We finished th
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