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
A new ligand (H4L) and its complexes with (CoII, NiII, CuII and PdII). This ligand was prepared in two steps, in the first step a solution of terephthaldehyde in methanol reacted under refluxe with 1,2-phenylenediamine to give precursore compound which reacted in the second step with 2,4- dihydroxybenzaldehyde to give the ligand. The complexes were synthesized by direct reaction of the corresponding metal chloride with the ligand. The ligand and complexes were characterized by spectroscopic methods [FT-IR, UV-vis, 1HNMR, HPLC and atomic absorption], chloride contant in addition to conductivity measurement. The stability constant K and Gibbs free energy ∆G were calculated for [[Ni2(H2L)Cl2], [Cu2(H2L)Cl2] complexes using spectrophoto
... Show MoreA rapid and sensitive method for analysis of amino acid hydrolysates of nigella sativa L seed has been developed using O-phthaldialehyde(OPA ) as a pre-column derivatizing agent. OPA reagents in the presence of mercaptoethanol react rapidly with primary amino acids ( less than 60 sec.) to form isindole derivatives which easily separated with good selectivity on ODS column. Resolution of amino acid derivatives is carried out with a methanol gradient in 0.01 maqueous sodium acetate. pH 7.1 . The quantitation of amino acid derivatives is reproducible within an average relative deviation of + 1.4% the linearity for most amino acids were more than 0.9993 with detection limit of 0.2 ppm. 15 amino acid were detected in the analysis of
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Time-domain spectral matching commonly used to define seismic inputs to dynamic analysis in terms of acceleration time history compatible with a specific target response spectrum is used in this study to investigate the second-order geometric effect of P-delta on the seismic response of base-isolated high-rise buildings. A synthetic time series is generated by adjusting reference time series that consist of available readings from a past earthquake of the 1940 El Centro earthquake adopted as an initial time series. The superstructure of a 20-story base isolated building is represented by a 3-D finite element model using ETABS software. The results of the base isolated building show that base isolation technique significantly reduces inter-s
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In the present research the flame retardancy to buildings and industrial foundations which are manufacturing from advanced polymeric composite material was increased by coating it with surface layer included flame retardant material. A(3mm) thick antimony tetroxide was used as a coated layer to retard and prevent the flame spread to the coating surface of polyester resin (SIROPOL 8340-PI) reinforced with hybrid fibers as a woven roving (°45-°0) consist of carbon and kevlar (49) fibers, and exposed it to direct flame generated from gas torch at temperature of (2000ºC), at different exposed distance (10,15,20mm)and study the rang of resistance for this layer and its ability to protec
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Toxoplasma gondii has a worldwide distribution and it is one of the most prevalent infectious agents in Iraq. The study was conducted on 200 serum samples of unmarried female university of students age ranged between 18 to 26 years to detect Toxoplasma gondii antibodies. The aim of this study was to detect T. gondii antibodies among unmarried female students in Iraqi universities using different serological tests. Seventy six (38%) serum samples out of 200 subjects were positive for toxoplasma antibodies by Latex agglutination test (LAT). Among 76 LAT sera positive ,only 58 (29%) serum samples were positive with toxoplasma IgG ELISA test , however , the results of IgM ELISA assay were positive only for 3 (1.5%) unmarried
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The aim of this paper was to investigate the removal efficiencies of Zn+2 ions from wastewater by adsorption (using tobacco leaves) and forward osmosis (using cellulose triacetate (CTA) membrane). Various experimental parameters were investigated in adsorption experiment such as: effect of pH (3 - 7), contact time (0 - 220) min, solute concentration (10 - 100) mg/l, and adsorbent dose (0.2 - 5)g. Whereas for forward osmosis the operating parameters studied were: draw solution concentration (10 - 150) g/l, pH of feed solution (4 - 7), feed solution concentration (10 - 100) mg/l. The result showed that the removal efficiency by using adsorption was 70% and the removal efficiency by using forward osmosis was 96.2 %.
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