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
Background: Chronic kidney disease is a worldwide health problem, with adverse outcomes of cardiovascular disease and premature death, can be divided into five stages, depending on how severe the damage is to the kidneys, or the level of decrease in kidney function, the final stage of chronic kidney disease is called end-stage renal disease, salivary immunoglobulin A is the main immunoglobulin found in mucous secretions, including tears, saliva, colostrum and secretions from the genitourinary tract gastrointestinal tract, prostate and respiratory epithelium . It is also found in small amounts in blood.This study aimedto measuresalivary flow rate and salivaryimmunoglobulin Alevels in chronic kidney disease patients on hemodialysis treatment
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Ameloblastic fibroma is a rare benign tumor usually affects the first two decades of life. The neoplasm is more predominant in mandibular molar-premolar region and rarely affects the maxilla. In this report, we present a couple of Ameloblastic fibroma cases, affecting boys at their 1st decade. The lesions were presented as swellings of their maxilla, which is atypical location. Radiographic images showed well-defined radiolucency containing areas of radio-opacities and impacted teeth. Differential diagnosis was established as cystic/neoplastic conditions. The lesions were incised and histopathologically diagnosed as Ameloblastic fibroma, since they were composed of immature odontogenic mesenchymal and epithelial cells showing different c
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Present investigation aimed to study plasma BNP hormone estimation as predictor of brain stroke and neurocognitive in relative with other limitations in CKD patient. The case control experimental study was conducted on CKD patient at Yarmuk Hospital at Baghdad Province, Iraq from February to April 2020. The results showed that there were significant variances (P< 0.05) between CKD patients and control group, there was significant increase in BNP hormone and cystatin-C levels at patient, while ihematological parameters were significantly decreased. The parameters of lipid profile were significantly increased (P<0.05). The result revealed that there was relationship between BNP hormone level and CKD. This support that BNP level is related wit
... Show MoreIn this paper, a harvested prey-predator model involving infectious disease in prey is considered. The existence, uniqueness and boundedness of the solution are discussed. The stability analysis of all possible equilibrium points are carried out. The persistence conditions of the system are established. The behavior of the system is simulated and bifurcation diagrams are obtained for different parameters. The results show that the existence of disease and harvesting can give rise to multiple attractors, including chaos, with variations in critical parameters.
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Anthropogenic activities cause soil pollution with different serious pollutants, such as polycyclic aromatic hydrocarbon (PAHs) compounds. This study assessed the contamination of PAHs in soil samples collected from 30 sites divided into eight groups (residential areas, oil areas, agricultural areas, roads, petrol stations, power plants, public parks and electrical generators) in Basrah city-Iraq during 2019-2020. The soil characteristics including (moisture, pH, EC and TOC) were measured. Results showed the following ranges (soil moisture (0.03-0.18%),pH (6.90-8.16), EC (2.48-104.80) mS/cm and TOC (9.90-20.50%)). Gas Chromatography (GC) was used to measure PAHs in extracted soil samples. The total PAH range (499.96 - 5864.86) ng/g dr
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The sunflower plants are attacked by serious seed and soil-borne pathogens including charcoal rot disease that caused by
Morphological and molecular identification was done, using universal primers for molecular identification. Finally, a greenhouse experiment was conducted, and
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Background: Dental caries is a disease occurs in the world in both developed and developing countries, it is still widespread among children and it can be controlled but not eliminated , most of tooth loss occurs due to dental caries and its complications. The aim of this study was to estimate the occurrence, and severity of dental caries and treatment needs among kindergarten children in Al-Basrah governorate. Materials and methods: The sample consisted of 1000 kindergarten children at age of 4-5 years old (445 boys and 555 girls) from urban areas in Al-Basrah city. Diagnosis and recording of dental caries and treatment needs were done according to the criteria of WHO (1987). Results: The percentage of dental caries was (80.8%) of the tota
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