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
The preparation and characterization of innovative nanocomposites based on zinc oxide nanorods (ZNR) encapsulated by graphene (Gr) nanosheets and decorated with silver (Ag), and cupper (Cu) nanoparticles (NP) were studied. The prepared nanocomposites (ZNR@Gr/Cu-Ag) were examined by different techniques including Field Emission Scanning Electron Microscope (FESEM), Transmission electron microscopy (TEM), Atomic force microscopy (AFM), UV-Vis spectrophotometer and fluorescence spectroscopy. The results showed that the ZNR has been good cover by five layers of graphene and decorated with Ag and Cu NPs with particles size of about 10-15 nm. The ZNR@Gr/Cu-Ag nanocomposites exhibit high absorption behavior in ultraviolet (UV) region of sp
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The 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
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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 rod that appears for Au NPs, in addition to that, TEM has been an indication of the fact that syn
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Two homopolymeric and three copolymeric additives for base oil were synthesized using octyl acrylate (OA) and tert-butyl acrylamide (TBA) monomers. The two additives named P1 and P2 are the homopolymers of TBA and OA, respectively, whereas copolymeric additives named Co1, Co2, and Co3 were synthesized by varying the ratios of TBA:OA as 1:3, 3:1 and 1:1, respectively. The prepared polymers were characterized by Fourier Transform Infrared (FTIR). Based on the solubility of synthesized polymers in base oil and reactivity ratios of TBA/OA copolymer (0.222, 0.434) calculated by Fineman-Ross method, P2, Co1, Co2 and Co3 were selected to evaluate their performance as pour point depressant (PPD), viscosity improver (VII), and anticorrosion addit
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Traumatic radial nerve injury in humeral shaft fracture is the most common traumatic nerve injury in long-bone fracture, with overall prevalence 2-18%, ranging from traction to complete transection. Spontaneous recovery may reach 88%. The aim of the study is to assess the sensitivity & specificity of the ultrasound to detect the radial nerve injury and to see if this can be used as a diagnostic test. This is a prospective study on 17 adult patients with a closed fracture of the humeral shaft, dividing into two groups, the first group of 7 patients had signs and symptoms of radial nerve palsy at presentation and the second group of 10 patients had intact radial nerve function was considered as a control group. All these patients had at leas
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Transition metal complexes of Y(III), La(III) and Rh(III) with azo dye 2,4-dimethyl-6- (4-nitro-phenylazo)-phenol derived from 4-nitroaniline and 2,4-dimethylphenol were synthesized. Characterization of these compounds has been done on the basis of elemental analysis, electronic data, FT-IR,UV-Vis and 1HNMR, as well as conductivity measurements. The nature of the complexes formed were studies following the mole ratio and continuous variation methods, Beer's law obeyed over a concentration range (1x10-4- 3x10-4). High molar absorbtivity of the complex solutions were observed. From the analytical data, the stoichiomerty of the complexes has been found to be 1:3 (Metal:ligand). On the basis of Physicochemical data octahedral geometries were as
... Show MoreThe present study provides a new insight into valuable information on the diverse structure of the Anisakid population and discusses the limited species richness in the Nemipterus japonicus (Bloch,1791) (Perciformes, Nemiperidae). The fishing area consists of various locations in the Arabian Gulf (29°58 0 33 00 N48°28 0 20 E). A total of 315 marine fish were examined, (n=287) were infected. Larval stages (n= 763) encysted within the mesenteries peritoneum and viscera of fish organs were isolated, with a prevalence of 91.11% of infection and, the intensity was 2.65. Molecular analysis was carried out on thirty individuals who have examined the morphology and showed some appearance differences, by amplifying internal transcribed spacers
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