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
In this study Microwave and conventional methods have been used to extract and estimate pectin and its degree of esterification from dried grapefruit and orange peels. Acidified solution water with nitric acid in pH (1.5) was used. In conventional method, different temperature degrees for extraction pectin from grape fruit and orange(85 ,90 , 95 and 100?C) for 1 h were used The results showed grapefruit peels contained 12.82, 17.05, 18.47, 15.89% respectively, while the corresponding values were 5.96, 6.74, 7.41 and 8.00 %, respectively in orange peels. In microwave method, times were 90, 100, 110 and 120 seconds. Grapefruit peels contain 13.86, 16.57, 18.69, and 17.87%, respectively, while the corresponding values were of 6.53, 6.68, 7.2
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The current study aimed the syntheses and characterizations of Gold nanoparticles (Au NPs) using a laser ablation Q-switched Nd: YAG laser with a wave-length of 355 nm at a variety of laser pulse energies (E) and deposited on porous silicon (PS). Optical emission spectrometer was used to diagnosed medium air to study gold plasma characteristics and prepared Au nanoparticles. The laser pulse energy influence has been studied on the plasma characteristics in air. The data showed the emergence of the ionic (Au II) spectral emission lines in the gold plasma emission spectrum. XRD has been utilized to examine structural characteristics. Moreover, AFM results 37.2 nm as the mean value of the diameter that is coordinated in a shape similar to the
... Show MoreThe study involved preparing a new compound by combining between 2-hydroxybenzaldehyde and (Z)-3-hydrazineylideneindolin-2-one resulting in Schiff bases and metal ions: Mn(II), Co(II), Ni(II), Cu(II), and Zn(II) forming stable minerals-based-Schiff complexes. The formation of resulting Schiff bases is detected spectrally using LC-Mss which gave corresponding results with theoretical results, 1H-NMR proves the founding of N=CH signal, FT-IR indicates the occurrence of imine band and UV-VIs mean is proved the ligand formation. On the other hand, minerals-based-Schiff was characterized using the same spectral means that relied with ligand (Schiff bases). Those means gave satisfactory results and proved the suggested distinguishable geometries.
... Show MoreA New ligand, N-(2-oxo-1,2- Dihydropyrimidin-4- ylcarbamothioyl) Acetamide (DPA) was prepared by reaction of iso thiosyanate derivative with Cytosine. The ligand has been characterized through elemental analysis, H1 NMR, C13NMR, FT-IR, and UV Visible spectra, such ligand’s transition metal complexes have been characterized through conductivity measurement, FT-IR, UV Visible spectra and magnetic susceptibility, all the complexes of this ligand are solid crystal and molar ratio (2:1) (ligand: metal). The form of molecular for these complexes octa hedral. The general formula [M(DPA)2Cl2], where M+2 = (Mn, Co, Ni, Cu, Zn, Cd, Hg).
The new ligand [N1,N4-bis((1H-benzo[d]Glyoxalin-2-yl)carbamothioyl)Butanedi amide] (NCB) derived from Butanedioyl diisothiocyanate with 2-aminobenz imidazole was used to prepare a chain of new metal complexes of Cr(III), Mn(II), Co(II), Ni(II), Cu(II), Pd(II), Ag(I), Cd(II) by general formula [M(NCB)]Xn ,Where M= Cr(III), n=3, X=Cl; Mn(II), Co(II), Ni(II), Cu(II), Pd(II), Cd(II) ,n=2 , X=Cl; Ag(I), n=1, X=NO3. Characterized compounds on the basis of 1H, 13CNMR (for (NCB), FT-IR and U.V spectrum, melting point, molar conduct, %C, %H, %N and %S, the percentage of the metal in complexes %M, Magnetic susceptibility, thermal studies (TGA),while its corrosion inhibition for mild steel in Ca(OH)2 solution is studied by weight loss. These measureme
... Show MoreBiodiesel can be prepared from various types of vegetable oils or animal fats with the aid of a catalyst.
Calcium oxide (CaO) is one of the prospective heterogeneous catalysts for biodiesel synthesis. Modification
of CaO by impregnation on silica (SiO2) can improve the performance of CaO as catalyst. Egg shells and rice
husks as biomass waste can be used as raw materials for the preparation of the silica modified CaO catalyst.
The present study was directed to synthesize and characterize CaO impregnated SiO2 catalyst from biomass
waste and apply it as catalyst in biodiesel synthesis. The catalyst was synthesized by wet impregnation
method and characterized by x-ray diffraction, x-ray fluorescence, nitr
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New chelating ligand derived from triazole and its complexes with metal ions Rhodium, Platinum and Gold were synthesized. Through a copper (I)-catalyzed click reaction, the ligand produced 1,3-dipolar cycloaddition between 2,6-bis((prop-2-yn-1-yloxy) methyl) pyridine and 1-azidododecane. All structures of these new compounds were rigorously characterized in the solid state using spectroscopic techniques like: 1HNMR, 13CNMR, Uv-Vis, FTIR, metal and elemental analyses, magnetic susceptibility and conductivity measurements at room temperature, it was found that the ligand acts as a penta and tetradentate chelate through N3O2, N2O2, and the geometry of the new complexes are identified as octahedral for (Rh & Pt) complexes a
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