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: Recurrent Aphthous Stomatitis (RAS) is the most common painful oral mucosal disease, affecting approximately 20% of the population. RAS presents with a wide spectrum of severity ranging from a minor nuisance to complete debility. Many of factors thought to have been involved in its etiology; that might have at the same time a direct or indirect impact upon oxidant/antioxidant system and trigger free radicals production. The aim of this study was to determine the possible association of oxidant/total antioxidant status and recurrent aphthous stomatitis (RAS). Subjects, materials and methods: The study consisted of thirty patients with recurrent aphthous stomatitis and thirty healthy controls from which saliva and blood samples we
... Show MoreAbstractBackground:Psoriasis is an inflammatorydiseasewhichcan be associated with otherdiseases, which may have amajor impact onpatientslife. Psoriasis has also been reported tobe associated with metabolic disorders.Metabolic syndrome(MS)isa combination ofmedicaldisorders that, when occurring together,increasesthe risk of development ofcardiovasculardiseasesanddiabetes.It affectsone in five people in the United States andtheprevalence increases with age. Some studieshave showntheprevalencein the USA to be anestimated 25% of the population.Objective:To investigate the prevalence ofmetabolic syndrome in patients with psoriasis.Methods: We performed a hospital-based case-
Coronary artery disease (CAD) is a major health concern and leading of death in individuals with type 2 diabetes mellitus (T2DM). Glutathione S – Transferase(GST) are known for their broad range of detoxification and in the metabolism of xenobiotics . The role of functional variants of these genes in the development of various disorder is proven. We investigated the possible role of these variants in the development of CAD in T2DM patients. In this case – control study a total of 60 patients (T2DM = 30 ; T2DM – CAD = 30) and 30 controls were included. Serum lipid profiles were measured and DNA was extracted from the blood samples. Multiplex PCR for GSTT1/M1 (present / null) polymorphism, were performed for genotyping of study pa
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This paper and research paper analyzes the critical methodology of "Ali Khan Joommal “ about the Bible , directed in most of the textual criticism of the Torah, and its highest criticism is directed to both the Old and New Testaments.
Joommal was distinguished by the mental methods and examples accompanying his era, while maintaining the general context in which Muslim scholars had previously followed, and he was distinguished from them by his many citations to the Western literature of Jews or Christians, in short it is a critical phenomenon worthy of study and evaluation.
The corrosion of low carbon steel boiler tubes in demi water had been investigated. The purpose of this investigation was to determine the change produced in corrosion behavior of the carbon steel as a result of the specific presence of chloride and copper ions in the water under different temperatures. For low carbon steel experiments, the temperature was taken in three levels (125, 175, and 215°C) under about 27 bar pressure and 1500 rpm in autoclave. Using weight loss technique, the corrosion rate ranges from (85 to 789 gmd) for low carbon steel boiler tubes.
Preserving the independence and sovereignty of the countries of the South Caucasus region, establishing political and economic stability in the region, and supporting regional cooperation are the main elements of Turkish foreign policy towards the region. The South Caucasus region, which has historical and cultural ties between it and Turkey, is a bridge that links Turkey to Central Asia.
Turkey later developed advanced relations with Azerbaijan and Georgia. However, the same momentum was not achieved in terms of relations with Armenia because of the conflict over Nagorny Karabakh
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ABSTRACT Background: Viral hepatitis places a heavy burden on the health care. Large number of patient with bleeding disorders has chronic hepatitis C infection, while few are chronic carriers of hepatitis B virus. Aims of study: evaluate the prevalence of HBV, HCV infection among patient with Von Willebrand disease and to find factors that associated with the chance of getting the infection.
Abstract Depending on their protective properties against different cases of Colorectal Cancer (CRC), vitamins C, D, and E are the main focus of this research. CRC is one of the global public health concerns. 30 healthy individuals provided serum samples, whereas the group of CRC patients was divided into three, totaling 90 individuals. Group I consisted of 30 newly diagnosed cases of CRC. Group II 30 consisted of consisted of 30 CRC patients who were administered three cycles of chemotherapy. Group III consisted of 30 diagnosed CRC patients who also have non-alcoholic fatty liver disease (NAFLD). The concentrations and groups of vitamins C, D, and E were evaluated using ELISA. The levels of Vitamin C were significantly lower (p &l
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