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, functional and numerical response tests, which are important components in the selection of biological control agent, were carried out. In functional response trials, the amount of food consumed, attack rate (a) and handling time (Th) were calculated for each developmental period, depending on the number of preys given after 24 hours. The obtained results were evaluated with the Holling. In numerical response experiments, the development of the predator insect was examined depending on the number of preys given in certain numbers (5, 10, 20, 40 and 80) and the data were recorded. This phase of the trials continued until the individuals died. At this stage of the trials, the reproductive response of the p
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The molluscicidal effects of herbicide 2, 4-D were studied against tow species of freshwater snail Bulinus truncatus and Melanopsis nodosa by short term experiments. Calculated values of lethal concentrations (LC50 and LC100) were maid to two spices for different period of time 24hr, 48hr, 72hr and 96hr. The study had showed that the herbicide 2, 4-D was toxic against the tow species. The toxicity of the herbicide was low or unknown in low concentrations in the first period of exposure 24and 48hr to two spices but it increase gradually with increase period of exposure. The spice of B.truncatus was more tolerant than the M.nodosa. All the individual of M nodosa was death while in B.truncatus the complete death was not appear until finish the
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Abstract. This work presents a detailed design of a three-jointed tendon-driven robot finger with a cam/pulleys transmission and joint Variable Stiffness Actuator (VSA). The finger motion configuration is obtained by deriving the cam/pulleys transmission profile as a mathematical solution that is then implemented to achieve contact force isotropy on the phalanges. A VSA is proposed, in which three VSAs are designed to act as a muscle in joint space to provide firm grasping. As a mechatronic approach, a suitable type and number of force sensors and actuators are designed to sense the touch, actuate the finger, and tune the VSAs. The torque of the VSAs is controlled utilizing a designed Multi Input Multi Output (MIMO) fuzzy controll
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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).
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In this research, 5- membered heterocyclic compounds as oxazolidine-5-one J1-J5 derivatives were prepared using primary aromatic amine, aromatic carbonyl compounds and chloroacetic acid. By combining primary aromatic amines and aromatic carbonyl compounds, Schiff's bases were synthesized. Schiff bases are used with the chloroacetic acid compound to prepare oxazolidine-5-one J1-J5 derivatives. The compounds J1-J5 were described using NMR spectroscopy and FT-IR. .The biological efficacy was evaluated according to maximum inhibitory concentrations (MICs) toward Staphyloccoccus aureus and Esherichia coli. The best MIC was 210 μg ml-1 for J4 against the two pathogenic bacteria, while J1, J4, and J1 did not show any inhibitory effect against all
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