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
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This is an empirical investigation of the tribal power in Iraq and its consequences on the socio-political system. A theoretical background concerning thestate kinship, tribe and tribal involvement in politics has been displayed with example of tribal power over people within the social context. Socio-anthropological method of data collection has been used, including a semi-structured interview with a sample of 120 correspondents. The outcome revealed that the feeble and corrupted state (government) play a vital role in encouraging the tribe to be dominant. The people of Iraq are clinging to the tribe regardless of whether they believe in it or not. Although they are aware that the tribe is a pre-state organisation and marred shape of ci
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Seven fish species were collected from the drainage network at Al-Madaen region, south of
Baghdad with the aid of a cast net during the period from March to August 1993. These fishes
were infected with 22 parasite species (seven sporozoans, three ciliated protozoans, seven
monogeneans, two nematodes, one acanthocephalan and two crustaceans) and one fungus
species. Among such parasites, Chloromyxum wardi and Cystidicola sp. are reported here for
the first time in Iraq. In addition, 11 new host records are added to the list of parasites of
fishes of Iraq.
The research attempts to diagnose the level of the effect of human resources flexibility (employees skills flexibility, employees behaviors flexibility, and human resource practice flexibility) in the south al-rusafa directorate of a power station one of the formations and the Ministry of Electricity, and impact of a range of variables related to the performance operational, namely, (efficiency, effectiveness)recognizing the importance of the subjects studied,& because of the importance of expected results of the field under consideration,researcher selected a sample of size (121) engineers and technicians of workers in the directorate. Was my hypotheses the major search of a relationship and impact between human resources flex
... Show MorePolycystic ovary syndrome (PCOS) referring to a syndrome that is recognized as a life-course disease and has both metabolic and reproductive signs; main pathophysiological cause includes insulin resistance, hyperandrogenism, and oxidative stress state. The study aimed to assess the impact of combining Myoinositol and Metformin, the main insulin-sensitizing drugs, on improving clinical, metabolic, and hormonal parameters in females with PCOS. A clinical trial that was prospective, randomized, and comparative on 54 patients (aged 18-40 y) are divided into three groups: group1 patients allocated to receive Myo-inositol(4g), group2 patients assigned to receive Metformin(1g) and group3 patients assigned to receive Myo-inositol(4g) + Metformin
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The co-occurrence of metabolic syndrome with type 2 diabetes mellitus (T2DM) will potentiate the morbidity and mortality that may be associated with each case. Fasting triglycerides-glucose index (TyG index) has been recommended as a useful marker to predict metabolic syndrome. Our study aimed to introduce gender-specific cut-off values of triglycerides- glucose index for diagnosing metabolic syndrome associated with type 2 diabetes mellitus. The data were collected from Baghdad hospitals between May - December 2019. The number of eligible participants was 424. National cholesterol education program, Adult Treatment Panel III criteria were used to define metabolic syndrome. Measurement of fasting blood glucose, lipid pro
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The high mobility group A1 gene (HMGA1) rs139876191 variant has been related to metabolic syndrome and type 2 diabetes, but data are lacking in Middle Eastern populations. The study aimed to assess whether the HMGA1 rs139876191 variant is associated with metabolic syndrome risk and whether this variant predicts the risk of insulin resistance. This case-control study was carried out at single center in Kirkuk city/ Iraq from February to August 2022. Polymorphisms in HMGA1 and genotyping were identified by Sanger sequencing of genomic DNA obtained from 91 Iraqi participants (61 patients with metabolic syndrome and 30 control). Lipid profile, serum (glucose and insulin), glycated hemoglobin, blood pressure, body mass index, and waist circumfer
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