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
This experiment presented essential oils by GC/MS, pigment content, and their antioxidant activities as well as sensory evaluation of delight samples. Limonene (66.88%) was the most prevalent yield. The peels of clementine had DPPH and ABT Scavenging activity. All levels of pigment extract had better scores for all sensory values and recorded acceptable scores in terms of appearance, color, aroma, and overall acceptability compared to control delight. Besides, delight samples containing 15 mg astaxanthin pigment extract showed maximum sensory scores compared to other samples and control delight. On the other hand, the product was less acceptable to the panelists compared to control in the case of the addition of 3.75 mg astaxanthin pigme
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Experimental programs based test results has been used as a means to find out the response of individual elements of structure. In the present study involves investigated behavior of five reinforced concrete deep beams of dimension (length 1200 x height 300 x width150mm) under two points concentrated load with shear span to depth ratio of (1.52), four of these beams with hallow core and
retrofit with carbon fiber reinforced polymer CFRP (with single or double or sides Strips). Two shapes of hallow are investigated (circle and square section) to evaluated the response of beams in case experimental behavior. Test on simply supported beam was performed in the laboratory & loaddeflection, strain of concrete data and crack pattern of
This study focuses on producing wood-plastic composites using unsaturated polyester resin reinforced with Pistacia vera shell particles and wood industry waste powder. Composites with reinforcement ratios of 0%, 20%, 30%, and 40% were prepared and tested for thermal conductivity, impact strength, hardness, and compressive strength. The results revealed that thermal conductivity increases with reinforcement, while maintaining good thermal insulation, reaching a peak value of 0.633453 W/m·K. Hardness decreased with increased reinforcement, reaching a minimum nominal hardness value of 0.9479. Meanwhile, impact strength and compressive strength improved, with peak values of 14.103 k/m² and 57.3864568 MPa, respectively. The main aim is to manu
... Show MoreGraphene oxide GO was functionalized with 4-amino, 3-substituted 1H, 1, 2, 4 Triazole 5(4H) thion (ASTT) to obtain GOT. GOT characterized by FT-IR, XRD.via modification of the working electrode of the SPCE with the prepared nanomaterial (GOT) the effect of scan rate and pH on the determination of Amoxilline (AMOX) was studied using cyclic voltammetry. AMOX show various responses at pH ranging from 2 to 7 and also was observed sharp increase in the oxidation peaks in the pH 3. The formal potential (midpoint) for AMOX was highly pH-dependent. From the effect of scan rate, surface coverage concentration Γ of electroactive species the values of the electron transfer coefficient and the electron transfer constant rate ket was obtained as 5.39×
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Arbuscular mycorrhizal fungi and sulphur foam added either at direct seeding or at transplanting decreased the effects of nematode (Meloidogyne javanica) on eggplant growth, and improved plant health. Experiments were conducted to study the possible interactions between the Mycorrhizal fungi (Glomus mossae and Gigaspora spp.) and sulphur foam to control M. javanica on eggplant at seed or seedling stage. Experiment at seed stage treated with Mycorrhiza or sulphur foam alone or together stimulated the growth and reduced Nematode infestation significantly. Treated plant at seedling stage increased plant growth and reduced the number of galls /gm of root system. The interaction between Mycorrhiza and sulpher foam treatments was not significant
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In this work, thiadiazole derivatives were prepared by taking advantage of active sites in (2-amino-5-mercapto-1, 3, 4-thiadiazole) as a starting material base. The main heterocyclic compounds (1, 3, 4-thiadiazole, oxazole) etc, 2-amino-5-mercapto-1,3,4-thiadiazole compound (1) was prepared by cyclic closure of thiosemicarbazide compound with anhydrous sodium carbonate and carbon disulfide. Oxidation of (1) via hydrogen peroxide, to have (2) which was treated with chloro acetyl chloride to get (3). Preparation of thiazole ring (4) was from reacting of (3) with thiourea. Synthesis of diazonium salts (5) from compound (4) using sodium nitrite and HCl. Compound (5) reacted with different ester compounds to prepare a new azo compounds (6–8).C
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