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: Polycystic ovary syndrome(PCOS) is one of the most common endocrine disorder affecting women in reproductive age. No single etiologic factor fully accounts for the spectrum of abnormalities in the polycystic ovary syndrome. Different changes in hormonal, metabolism and the inflammatory markers as squealy of PCOS with adverse effect on the women life. OBJECTIVE: To study the relationship between polycystic ovary syndrome and levels of C-reactive protein, human interleukin and hormonal and metabolic alteration in women with PCOS PATIENTS AND METHODS: Thirty women with Polycystic Ovary syndrome (PCOS) and other thirty women without PCOS were included. Venous blood samples were taken in early follicular phase of menstrual cycle [day
... Show MoreThe current study is a taxonomic account of three gastrotrich species that belong to Chaetonotidae (Phylum Gastrotricha) namely Ichthydium auritum Brunson, 1950 Lepidodermella squamata (Dujardin, 1841) and Chaetonotus anomalus Brunson, 1950. These species are registered as a new record from Iraq and were collected from several locations along the main outfall drain (MOD) in south of Baghdad, from January to December 2020. The species described in this article were found to be related to Hydrilla and Ceratophyllum and prefer environments rich in detritus and decomposing organic matter. The worms preferred water that is salty, hard, alkaline, and had good oxygen content.
The present study aims to study the correlation between visfatin levels and metabolic syndrome in Iraqi obese adolescence (with and without metabolic syndrome) and its relation with other studied biochemical parameters. Sixty obese adolescences were depended in this study (with and without metabolic syndrome), compared with (30) non-obese children as control group. This study was done in the period from April 2020 until the end of December 2020, in the National Diabetes Centre/Mustansiriya University, Baghdad/Iraq. There were no significant differences in age, height, waist circumferences (WC), and diastolic blood pressure (DBP) in the patients' groups. In contrast, a significant increase differs (p<0.05) was recorded in the values of
... Show MoreABSTRACT Background: Dental anomalies of teeth are major issue that contributes to dental problems encountered in general practice. The aim of this study is to measure the prevalence of dental anomalies and the associated etiological factors among 15 years old students in Basrah city –Iraq. Materials and methods: The total sample composed of 1000 students (435 males and 565 females) from urban area selected randomly from different high schools in the city. Diagnosis of dental anomalies were recorded by present or absent, diagnosis and recording of enamel defects were done according to the criteria of WHO (1997). Results: The prevalence of hypodontia was 4.6%, Females have higher prevalence than males (5.8% females and 3.0% males), ta
... Show MoreIn order to find the relationship between Helicobacter pylori infection and hematological disease are disorders which primarily affect the blood and blood-forming organs. One hundred and three blood samples were taken for people aged (20-68) years for the period from 10/1/2021 to 1/3/2022, divided into three groups. The first group included 44-person H. pylori-infected with symptoms of infection, the second group had 19-person H. pylori-infected but without symptoms, and the third group included 40 people without H. pylori infection. All studied groups were carried out to measure anti-IgG Ab, Vac A and Ferritin by Enzyme Linked Immunosorbent Assay (ELISA) technique. The statistical analysis indicates a non-significant difference in Vac A (p
... Show MoreSurvival analysis is widely applied to data that described by the length of time until the occurrence of an event under interest such as death or other important events. The purpose of this paper is to use the dynamic methodology which provides a flexible method, especially in the analysis of discrete survival time, to estimate the effect of covariate variables through time in the survival analysis on dialysis patients with kidney failure until death occurs. Where the estimations process is completely based on the Bayes approach by using two estimation methods: the maximum A Posterior (MAP) involved with Iteratively Weighted Kalman Filter Smoothing (IWKFS) and in combination with the Expectation Maximization (EM) algorithm. While the other
... Show MorePeriodontitis is one of the most prevalent bacterial diseases affecting man with up to 90% of the global population affected. Its severe form can lead to the tooth loss in 10-15% of the population worldwide. The disease is caused by a dysbiosis of the local microbiota and one organism that contributes to this alteration in the bacterial population is Prophyromonas gingivalis. This organism possesses a range of virulence factors that appear to contribute to its growth and survival at a periodontal site amongst which is its ability to invade oral epithelial cells. Such an invasion strategy provides a means of evasion of host defence mechanisms, persistence at a site and the opportunity for dissemination to other sites in the mouth. However, p
... Show MoreThe neutrophil/ lymphocyte ratio (NLR) and platelet/lymphocyte ratio (PLR) have the potential to be inflammatory markers that reflect the activity of many inflammatory diseases. The aim of this study was to evaluate the NLR and PLR as potential markers of disease activity in patients with ankylosing spondylitis.
The study involved 132 patients with ankylosing spondylitis and 81 healthy controls matched in terms of age and gender. Their sociodemographic data, disease activity scores using the Bath Ankylosing
Metabolic syndrome (MetS) is a combination of health disorders that mainly result from overweight and obesity. It increases the risk of developing cardiovascular disease and diabetes. (MetS) closely related to the existence weight gain or Obesity and laziness. It increases the serum levels of TNF-α and change the levels of a number of other parameters (e.g., adiponectin, resistin, and PAI-1). TNF-α dose not only appear to cause the production of inflammatory cytokines. It can trigger cell signaling by interacting with TNF-α receptors that can lead to insulin resistance. Usually, the digestive system molders the foods you eat and converts them to glucose. Insulin is an anabolic hormone produced by the pancreas that aids gluc
... Show MoreMetabolic syndrome (MetS) is a combination of health disorders that mainly result from overweight and obesity. It increases the risk of developing cardiovascular disease and diabetes. (MetS) closely related to the existence weight gain or Obesity and laziness. It increases the serum levels of TNF-α and change the levels of a number of other parameters (e.g., adiponectin, resistin, and PAI-1). TNF-α dose not only appear to cause the production of inflammatory cytokines. It can trigger cell signaling by interacting with TNF-α receptors that can lead to insulin resistance. Usually, the digestive system molders the foods you eat and converts them to glucose. Insulin is an anabolic hormone produced by the pancreas that aids glucose get in y
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