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
Abstract Organic compounds with pyrazole cores have a variety of uses, notably in the pharmaceutical and agrochemical sectors. The interest in creating pyrazole compounds, examining their many features, and looking for potential uses is growing. Our work has concert with synthesis of chalcones and pyrazolines, then finally pyrazoline-aniline derivatives and evaluation their anti-inflammatory, antibacterial and antifungal activities
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Background: In spite of all efforts, Non-small cell lung cancer (NSCLC) is a fatal solid tumor with a poor prognosis as of its high metastasis and resistance to present treatments. Tyrosine kinase inhibitors (TKI) such as erlotinib are efficient in treating NSCLC but the emergence of chemoresistance and adverse effects substantially limits their single use. Objective: in this study, the combination treatments of either 2-deoxy-D-glucose (2DG) or cinnamic acid (CINN) with erlotinib (ERL) were tested for their possible synergistic effect on the proliferation and migration capacity of NSCLC cells. Methods: In this study, NSCLC model cell line A549 was used to investigate the effects of single compounds and their combination on cell gro
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Objective: Hesperidin (HSP) is a pharmacologically active organic compound found in citrus fruits and peppermint. We synthesized a new HSP derivative by reacting it with 5-Amino-1,3,4-thiadiazole-2-thiol in acetic acid. Methods: This compound was characterized by Fourier-transform infrared, proton nuclear magnetic resonance, and electron impact mass spectra. A molecular docking study explores the predicted binding of the compound and its possible mode of action. Bioavailability, site of absorption, drug mimic, and topological polar surface was predicted using absorption, distribution, metabolism, and excretion (ADME) studies. Results: The docking study predicts that the new compound binds to the active sites of Aurora-B
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New polymer blend with enhanced properties was prepared from (80 %) epoxy resin (Ep), (20%) unsaturated polyester resin (UPE) as a matrix material. The as-obtained polymer blend was further reinforced by adding Sand particles of particle size (53 μm) with various weight fraction (5, 10, 15, 20 %). Thermal conductivity and sorption measurements are performed in order to determine diffusion coefficient in different chemical solutions (NaOH, HCl) with concentration (0.3N) after immersion for specific period of time (30 days). The obtained results demonstrate that the addition of sand powder to (80%EP/20%UPE) blend leads to an increase of thermal conductivity, with an optimum/minimum diffusion coefficient in (HCl)/(NaOH), respectively.
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Mefenamic acid (MA) is one of the non-steroidal anti-inflammatory drugs, it is widely used probably due to having both anti-inflammatory and analgesic activity, the main side effects of mefenamic acid include gastrointestinal tract (GIT) disturbance mainly diarrhea, peptic ulceration, and gastric bleeding. The analgesic effects of NSAIDs are probably linked to COX-2 inhibition, while COX-1 inhibition is the major cause of this classic adverse effects. Introduction of thiazolidinone may lead to the increase in the bulkiness leads to the preferential inhibition of COX-2 rather than COX-1 enzyme. The study aimed to synthesize derivatives of mefenamic acid with more potency and to decrease the drug's potential side effects, new series of 4-t
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In this research various of 2,5-disubstituted 1,3,4-oxadiazole (Schiff base, oxo-thiazolidine , and other compounds) were synthesized from 2,5-di(4,4?- amino-1,3,4-oxadiazole ) which use quently synthesized from mixture of 4-amino benzoic acid and hydrazine in the presence of polyphosphorus acid. The synthesized compounds were characterized by using some Spectral data (UV, FT-IR, and 1H-NMR).
Delivering therapeutic agents to the brain remains a major challenge due to the restrictive nature of the blood–brain barrier (BBB). Intranasal administration has emerged as a promising, non-invasive approach that bypasses the BBB and facilitates direct nose-to-brain transport via the olfactory and trigeminal pathways. In this study, we developed a nanostructured lipid carrier (NLC) system for the intranasal delivery of dolutegravir sodium, a potent integrase inhibitor, with the goal of enhancing brain bioavailability for the treatment of neuroHIV and related central nervous system (CNS) complications. The NLCs were optimized for particle size, polydispersity index (PDI), and drug incorporation efficiency. The optimized formulation exhibi
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