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
Automated clinical decision support system (CDSS) acts as new paradigm in medical services today. CDSSs are utilized to increment specialists (doctors) in their perplexing decision-making. Along these lines, a reasonable decision support system is built up dependent on doctors' knowledge and data mining derivation framework so as to help with the interest the board in the medical care gracefully to control the Corona Virus Disease (COVID-19) virus pandemic and, generally, to determine the class of infection and to provide a suitable protocol treatment depending on the symptoms of patient. Firstly, it needs to determine the three early symptoms of COVID-19 pandemic criteria (fever, tiredness, dry cough and breat
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Cardiovascular disorders are refer to the class of diseases that involve the heart or blood vessels (arteries and veins). While the term technically refers to any disease that affects the cardiovascular system. Cholesterol is classified as a sterol (a contraction of steroid and
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ABSTRACT Pulmonary alveolar microlithiasis is rare infiltrative pulmonary disease characterized by intra-alveoli deposition of microliths. We present a familial case of an adult female with complaint of progressive shortness of breath on exertion. Chest radiograph showed innumerable tiny dense nodules, diffusely involving both lungs mainly the lower zones. High-resolution CT scan illustrated widespread intra-alveolar microliths, diffuse ground-glass attenuation areas and septal thickening predominantly in the basal regions. Chest radiograph is all that is needed for the diagnosis of this case but CT scan was done to demonstrate the extent and severity of this disease
Background: Chronic obstructive pulmonary disease (COPD) is a progressive airflow limitation that is preventable but not curable. It is associated with persistent symptoms that cause a considerable burden on individual productivity at work, and daily activities, and reduced quality of life, also burdening the healthcare system and society. Objectives: The study aims to measure the burden of COPD on patients in terms of daily activities and work productivity. It also seeks to investigate some inflammatory biomarkers' levels and their correlation with selected outcomes. Patients and Methods: A cross-sectional study on 120 stable COPD patients who were diagnosed and treated according to the GOLD guidelines at Kirkuk General Hospital's
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The study aimed to evaluate the benefits of transferrin saturation percentage (TSAT) and serum ferritin in assessing body iron status, which can influence erythropoietin treatment in patients with ESRD. Forty end-stage renal disease patients on regular hemodialysis participated in this study. Clinical data were obtained. Serum iron, total iron binding capacity, transferrin saturation, ferritin, albumin, creatinine, and C-reactive protein were investigated. Thirty healthy people were enrolled as a control group. ESRD patients had a mean age of 45.1±13.9 years, with 60% being males. They exhibited significantly lower hematocrit (25.3±6.5%), and higher platelet (285.7±148.1x10^9/L) and WBC (9.4±3.1x10^9/L) counts compared to healthy contro
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The relationship of hyperuricemia to kidney disease, diabetes, hypertension and the risk of cardiovascular diseases remain controversial. The aim of this study is to evaluate the use of uric acid (UA) levels to find the higher risk of cardiovascular disease (CVD) in patients with end stage renal disease that have diabetic nephropathy (DN), nephropathy with hypertension (NH) and patients with both diabetic nephropathy with hypertension (DNH). This study deals with 115 patients with end-stage renal disease under hemodialysis sub-grouped into 35 patients with (DN), 40 patients with (NH), and 40 patients with (DNH). Some biochemical parameters were determined in the serum of all participants such as HbA1c, fasting blood glucose (FBG), UA, urea,
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Background: Most prevalent chronic liver disease in developed and developing nations is non-alcoholic fatty liver disease. From fatty liver, which often has benign, non-progressive clinical history, to non-alcoholic steatohepatitis, a more serious variant of fatty liver that can lead to cirrhosis and end-stage liver disease, non-alcoholic fatty liver disease encompasses broad spectrum of diseases. The gold standard for determining extent of hepatic fibrosis is still liver biopsy; however, number of noninvasive tests have been established to make diagnosis and assess effectiveness of treatment.
Objective: Aim of study was to assess effectiveness of the combination of fibroscan and
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This studay was performd on 30 serum specimens of patients having type II diabetes with cardiac disease, and 40 normal specimens were investigated as control group.The activity rate of AAP in patients (125.31± 3.28)I.U/L and activity rate of AAP in normals (6.76±2.21) I.U/L, in addition purification of AAP from serum patients having type II diabetes with cardiac diaease by using dialysis bag and gel filtration (Sephadex G-50). The results of the study reveal that Alanine aminopeptidase (AAP) activity of type II diabetes with cardiac disease patients' serum show a high signifiacant increase (p<0.001) compare to normal subject .
A water crisis is a circumstance in which a region accessible potable, unpolluted water is less than the requirement of that country. Two converging trends cause water scarcity, that are expanded use of irrigation, and loss of available freshwater supplies. Water scarcity can arise from two mechanisms, the physical water scarcity because of deficient natural water supply to fulfil the country demand, and economic water scarcity due to bad management for sufficient available water resources. This research examines data set as multispectral Landsat 8 satellite images that are detected for Basrah city, located in southern Iraq, and positioned between Kuwait and Iran on the Shatt al-Arab. Such raw data are satellite images. Using ENVI 5.3 softw
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Background: Corona virus disease 2019 (COVID-19) is a communicable disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). It was first identified in December 2019 in Wuhan, China, and has since spread globally, leading to an ongoing pandemic.
Aim of study: to review the clinical, lab investigation and imaging techniques, in pediatric age group affected COVID-19 to help medical experts better understand and supply timely diagnosis and treatment.
Subjects and methods: this study is a retrospective descriptive clinical study. The medical records of patients were analyzed. Information’s recorded include demographic data, exposure history, symptoms, signs, laboratory findin
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