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
Afamin, which is a human plasma glycoprotein, a putative multifunctional transporter of hydrophobic molecules and a marker for metabolic syndrome. Afamin concentration have been proposed to have a significant role as a predictor of metabolic disorders. Since NAFLD is associated with metabolic risk factors, e.g., dyslipidemia, insulin resistance and visceral obesity, it is considered as the hepatic manifestation of the metabolic syndrome. The objective of this study is to determine Afamin levels in hypothyroid patients with and without fatty liver disease and compare the results with controls. Also to study the relationship of Afamin level with the Anthropometric and Clinical Features (Age, Gender, BMI and Duration of Hypothyroidism) , Serum
... Show MoreMost of the medical datasets suffer from missing data, due to the expense of some tests or human faults while recording these tests. This issue affects the performance of the machine learning models because the values of some features will be missing. Therefore, there is a need for a specific type of methods for imputing these missing data. In this research, the salp swarm algorithm (SSA) is used for generating and imputing the missing values in the pain in my ass (also known Pima) Indian diabetes disease (PIDD) dataset, the proposed algorithm is called (ISSA). The obtained results showed that the classification performance of three different classifiers which are support vector machine (SVM), K-nearest neighbour (KNN), and Naïve B
... Show MoreThyroid disease is a common disease affecting millions worldwide. Early diagnosis and treatment of thyroid disease can help prevent more serious complications and improve long-term health outcomes. However, thyroid disease diagnosis can be challenging due to its variable symptoms and limited diagnostic tests. By processing enormous amounts of data and seeing trends that may not be immediately evident to human doctors, Machine Learning (ML) algorithms may be capable of increasing the accuracy with which thyroid disease is diagnosed. This study seeks to discover the most recent ML-based and data-driven developments and strategies for diagnosing thyroid disease while considering the challenges associated with imbalanced data in thyroid dise
... Show MoreThe present study has examined the spatiotemporal varieties of the demographics of the Shatt Al-Arab River fishes and their relation to some ecological components. The aim is to forecast these groups in the unexplored parts of the waterway with an emphasis on environmental indices of diversity. Three sites in the river were selected as an observation and study of these species, which lasted from March 2019 to February 2020, the study dealt with factors affecting fishes, as Water Temperature (WT), Dissolved Oxygen (DO), Potential Hydrogen Ion (pH), Salinity (Sal), and Transparency (Tra). Gill nets, cast nets, hooks, and hand nets were adopted to collecting fish. The results indicated that the fish population comprises 60 species represent
... Show MoreHypertension is a major health problem throughout the world because of its high prevalence and its association with increased risk of cardiovascular diseases. It is defined as systolic blood pressure ≥ 140 mmHg and/or diastolic blood pressure ≥ 90 mmHg. The aim of this study was to compare the efficacy, safety and cardiovascular disease risk lowering ability, of three antihypertensive drug regimens.
A retrospective study was carried out on 66 hypertensive patients, divided in to three groups based on their antihypertensive drug regimens (ACE inhibitors, β-blockers treated and combination antihypertensive therapy, the combination therapy consist of two or more of the following antihypertensive drugs ACE inhibitor di
... Show MoreIntroduction Periodontal diseases are ranked among the most common health problems affecting mankind. These conditions are initiated by bacterial biofilm, which is further modulated by several risk factors. Objectives To investigate the association of different risk factors with periodontal...
ABSTRACT : Alzheimer’s disease (AD) is one of the most common inflammatory neurodegenerative diseases linked with dementia, it is characterized by the deposition of amyloid beta-peptide (Ab) in the brain. The present study aims to innovate a biochemical relationship between AD and interleukin 38 (IL-38) as an anti-inflammatory cytokine, expose novel mechanisms and concepts regarding other biochemical parameters studied previously or recently in AD patients and also examine the biochemical action of memantine (10 mg daily) on AD patients. Sixty (60) diagnosed AD patients participated in the present study and classified into four (4) groups: G3 were composed of (15) newly diagnosed males (52-78) years / without treatment, G4 composed of (15
... Show MoreRecently The problem of desertification and vegetation cover degradation become an environmental global challenge. This problem could be summarized as as the land cover changes. In this paper, the area of Al- Muthana in the south of Iraq will be consider as one of Semi-arid lands. For this purpose, the Ladsat-8 images can be used with 15 m in spatial resolution. In order to over Achieve the work, many important ground truth data must be collected such as, rain precipitation, temperature distribution over the seasons, the DEM of the region, and the soil texture characteristics. The extracted data from this project are tables, 2-D figures, and GIS maps represent the distributions of vegetation areas, evaporation / precipitation, river levels
... Show MorePore pressure means the pressure of the fluid filling the pore space of formations. When pore pressure is higher than hydrostatic pressure, it is named abnormal pore pressure or overpressure. When abnormal pressure occurred leads to many severe problems such as well kick, blowout during the drilling, then, prediction of this pressure is crucially essential to reduce cost and to avoid drilling problems that happened during drilling when this pressure occurred. The purpose of this paper is the determination of pore pressure in all layers, including the three formations (Yamama, Suliay, and Gotnia) in a deep exploration oil well in West Qurna field specifically well no. WQ-15 in the south of Iraq. In this study, a new appro
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