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
The mechanism for selecting the President of the Republic and his constitutional powers under the Constitution of the Republic of Iraq
In a world of limited space, the owners are always surrounded by others next to them, and, consequently, there is hardly any activity which the owner may exercise on his land which would not affect the other owners. If he builds a building, that building may block the sun's rays or the air from the buildings next to it and owned by other people. And if he runs a business, the lands adjacent to that business may be overburdened with the accompanying noise or traffic. If oil is prospected in a land, the neighboring lands may be deprived of oil or their owners may be exposed to toxic fumes. Hence the importance of researching the intention of harming others, as it is one of the most important forms of abuse in the use of the right (especially
... Show MoreThe research topic (The Impact of the Compulsory Reserve on the Banks Credit-an applied research on a sample of Iraqi banks), was chosen on basis of the Iraqi private Banks attempts to increase their credit activities in hope to gain more profits.This coincided with the CBI aim to back the private banking market.It is thus apparent why the CBI issued its regulation to those banks to increase their capitals up to IDB250. On the other hand,the CBI acted as an obstacle in the way of increasing the private banks of their capitals,that is by implementing the quantitive monetary tool so called the compulsory reserve.This is why we intended to overlook at this contradictional problome
... Show MoreThe implicit pattern is one of the cultural patterns that are present in both the text and theatrical presentation and the reading of the implicit pattern cannot take place without cognitive references, whether audio or visual as well as historical references and the natural, social and psychological dimensions of communities and individuals.
The researcher, in this study, attempted to focus on the axis of the aesthetic preoccupations of the implicit pattern in the theatrical presentation and the definition of the implicit pattern. Methodologically speaking, the research problem focused on revealing the outlines and the main features in the aesthetic preoccupations that shape the i
... Show MoreHarold Pinter’s The Caretaker(1959) clearly portrays a lack of communication among the characters of the play which refers to the condition of modern man. This failure of communication led Harold Pinter to use a lot of pauses and silences in all the plays he wrote instead of words. Samuel Beckett preceded Pinter in doing so in his plays and one way to express the bewilderment of modern man during the 20th century is through the use of no language in the dramatic works. Language is no more important to modern man; instead, he uses silence to express his feelings. Silence is more powerful than the words themselves. That’s why long and short pauses can be seen throughout all Pinter’s plays.
In this play, th
... Show MoreThe present study is a linguistic study of comment clauses in the American Series „Friends‟ .Comment clauses refer to those clauses which comment on the content of the main clause or the attitude of the speaker towards the way of speaking .The problem of this study is to answer the following questions ; what types of comment clauses can be used in the face- to –face conversations , for what functions these comment clauses could be used , and how these comment clauses are used by the participants of these conversations . This study is a qualitative one . The study aims to investigate the types of comment clauses used in the American Series “Friends‟. The study also aims to investigate the pragmatic functions of these comment clause
... Show MoreThe formula is effective in Surat Nisa
(A study of gramophone)
in the name of o Allah the Merciful
Praise be to Allah, Lord of the Worlds, and prayers and peace be upon the Seal of the Prophets and Messengers. The envoy is a mercy to the worlds Muhammad Sadiq Al - Amin and to the pure and good companions of the Tayyibites.
The formula of the morphological formulas, which have diverged from other meanings, whether lexicon or contextual and what this formula contains many meanings (effective source) and (effective in the sense of effective) and (effective sense reactor) and (effective sense) and ( (F) in the sense of a similar character) and ((the name of the) (collect). This was dealt with in the formula in Surat al-Nisaa
The study of the dynamic behavior of packed distillation column was studied by frequency response analysis using Matlab program. A packed distillation column (80 mm diameter) (2000 mm height) filled with glass packing (Raschig Rings 10mm), packing height (1500 mm) has been modified for separation of methanol-water mixture (60 vol%). The column dynamic behavior was studied experimentally under different step changes in, feed rate (±30%), reflux rate (±22%), and reboiler heat duty (±150%), the top and bottom concentration of methanol were measured. A frequency response analysis for the above step response was carried out using Bode diagram, the log modulus and the phase angle were used to analyze the process model. A Matlab progra
... Show MoreRecent reports of new pollution issues brought on by the presence of medications in the aquatic environment have sparked a great deal of interest in studies aiming at analyzing and mitigating the associated environmental risks, as well as the extent of this contamination. The main sources of pharmaceutical contaminants in natural lakes and rivers include clinic sewage, pharmaceutical production wastewater, and sewage from residences that have been contaminated by drug users' excretions. In evaluating the health of rivers, pharmaceutical pollutants have been identified as one of the emerging pollutants. The previous studies showed that the contaminants in pharmaceuticals that are widely used are non-steroidal anti-inflammatory drugs, ant
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