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
This study aims to develop a thermosensitive mucoadhesive periodontal in situ gel of secnidazole for local release of drug for treatment of periodontitis, in order to increase the drug residence time and to increase patient compliance while lowering the side effects of the drug.
Cold method was used to prepare 30 formulas of secnidazole periodontal in situ gel, using different concentrations of thermosensitive polymers (poloxamer407 alone or in combination with poloxamer 188) and methyl cellulose (MC ) or hydroxypropyl methylcellulose (HPMC K4M )in different concentrations used as mucoadhesive polymer and the resultant formulations were subjected to several tests such as gelation temperature GT, appearance and pH value. The fo
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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 glucose get in y
... 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 gluc
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Feline calicivirus (FCV) is a highly contagious virus that causes a mild to severe respiratory infection and oral disease in cats. It is especially common in shelters and breeding colonies, and often infects young cats, this study contained 50 different cats and samples were collected from September 2020 to January 2021. Samples taken by swabs from oropharyngeal and conjunctival area depending on the lesion of FCV infection to investigate viral nucleic acid from collected swabs, then extracting RNA from the swabs and converting it to a cDNA molecule, and last detecting the open reading template gene 2 using specific primer, these samples isolated from veterinary clinics, and shelters, all samples were collected from Baghdad city .Ra
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The aim of this research to show the role of some enzymes in pathological mechanism of rheumatoid arthritis (RA) disease. Sixty patients with RA and matched number of apparently healthy volunteers were included in the study. Spectrophotometric methods were used to determine Peroxy nitrite (ONOO), Nitric oxide (NO), Nitric oxide synthase activity (NOS) cycloxygenase-2 activity (COX-2), glutathione peroxidase (GPX) activity and superoxide dismutase (SOD) activity in serum of both groups. Colorimetric assay kits were used to determine Iron. Rheumatoid factor (RF) was determined using Imuno-Latex kit. ONOO, NO levels, and NOS activity were significantly higher in the patients compared to the control group. Conversely, Iron level, SOD
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One of the most common public liver diseases over the world is fatty liver which contain alcoholic and non-alcoholic fatty liver. One-fourth among general population are impact Non-Alcoholic Fatty Liver Disease (NAFLD) in the worldwide.Retinol binding protein 4 (RBP4) is known as an adipokine, mainly synthesized and secreted from the liver and form adipose tissues. RBP4 acts as a transporter and specifically bound to retinol from liver to others tissues. Visfatin is an adipocytokine and mainly produced from visceral fat tissue, skeletal muscles as well as liver. Vitamin A absorbed, transported as retinyl esters to the liver then hydrolyzed to the retinol form and storage in hepatic stellate cells (HSCs) after reesterified with rigly
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Breast cancer (BC) is one of the most frequently observed malignancy in females worldwide. Today, tamoxifen (TAM) is considered as the highly effective therapy for treatment of breast tumors. Oxidative stress has implicated strongly in the pathophysiology of malignancies. This study aimed to investigate the changes in the levels of oxidants and antioxidants in patients with newly diagnosed and TAM-treated BC. Sixty newly diagnosed and 60 TAM-treated women with BC and 50 healthy volunteers were included in this study. Parameters including total oxidant capacity (TOC), total antioxidant capacity (TAC), and catalase (CAT) activity were determined before and after treatment with TAM. The serum levels of TOC and oxidative stress index (OSI) were
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