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Exploring Molecular and Phenotypic Characteristics of <i>NAGLU</i> Arg234Gly and Asp312Asn Variants
No full textIntroduction: Mucopolysaccharidosis type IIIB is an autosomal recessive lysosomal disorder caused by variants in the alpha-n-acetylglucosaminidase (NAGLU) gene. It is a progressive neurodegenerative disorder with no treatment. Previous enzyme therapies have been unsuccessful. It is important to understand the mechanism of the disease to be able to find new treatments. Methods: We did whole-exome sequencing and standard Sanger sequencing on 7 cases of four consanguineous families diagnosed with autism spectrum disorder. Results: We identified two recurrent damaging biallelic Asp312Asn and p.Arg234Gly variants in the NAGLU gene. Structure modeling of these variants suggested that each variant affects the stability of the enzyme and results in a loss of activity. All affected individuals' enzymatic assay in leukocytes clearly showed that alpha-n-acetylglucosaminidase was completely inactive. Our patients underwent magnetic resonance imaging (MRI), revealing normal findings in two of them despite progressive clinical neurodegenerative symptoms. To our knowledge, these cases represent the second and third instances of normal MRI findings documented in the literature
Antioxidant and pH-dependent cationic and anionic dye degradation activities of optimum synthesized organic@inorganic Cu hybrid nanoflowers
No full textFirst time in this study, hybrid Cu nanoflowers (Cu hNFs) were synthesized with Cystosphaera jacquinotii algae extract and the pH-dependent catalytic activities of hNFs synthesized under optimum conditions against brilliant blue and methylene blue dyes were determined. Ideal morphology of hNFs, were synthesized by using 1 ml extract in PBS (pH 7.4). The diameter and petal thickness of optimum synthesized hNF were 7-22 mu m, and 35.5 nm, respectively. Main skeleton component (C, O, P, and Cu) of hNFs were determined by EDX. The presence of functional groups and primary phosphate crystals formed by Cu and phosphate reaction in the PBS buffer were confirmed by FT-IR analysis. The hNFs exhibited the antioxidant activity (IC50 = 1.27 mg/ml, R2 = 0.6971) against to DPPH (2,2-diphenyl-1- (2,4,6-trinitrophenyl) hydrazyl). hNFs degraded methylene blue and brilliant blue dyes at the highest at pH 9 (73.85%) and pH 5 (68.19%) media, respectively. Catalytic activities of hNFs against methylene blue and brilliant blue dyes were explained by Fenton mechanism. The findings are thought to be used in new type hNF synthesis and various environmental applications
Tubular Surfaces of Adjoint Curves According to the Modified Orthogonal Frame
No full textIn this paper, we study tubular surfaces defined by adjoint curves which have a wide range of applications. In three-dimensional Euclidean space, we consider tubular surfaces in modified orthogonal frame generated by a curve β whose center curve is adjoint of a curve α. We give some characterizations for tubular surfaces constructed according to with curvature and with torsion modified orthogonal frames. Through these characterizations we obtain some important results. We also study asymptotic and geodesic curves as well as flat, minimal, Weingarten and linear-Weingarten surfaces using conventional differential geometry techniques. Finally, we present case examples for both versions of the frame to validate our theoretical results
Comparison of the Influence of Polypropylene (PP) or Polybutylene Terephthalate (PBT)-Based Meltblown and Polyester/Polyamide-Based Hydroentangled Inner Layers on the Sound and Thermal Insulation Properties of Layered Nonwoven Composite Structures
No full textThermal and sound insulation play a vital role in today's world, and nonwoven composite structures including microfiber layers provide efficient solutions for addressing these demands. In this study, the sound and thermal insulation properties of nonwoven composite structures, including single-layer meltblown, multilayer meltblown, hydroentangled, and nanofiber nonwoven inner layers, were compared statistically by using Design Expert 13 software. The inner layer type and outer layer type of the composite structures were considered as independent variables, and thickness, bulk density, air permeability, sound absorption coefficient, and thermal resistance of composite structures were evaluated as dependent variables during statistical analyses. The effects of layer types on dependent variables were investigated comparatively, and the best inner and outer layers for high sound and thermal insulation were determined. It was concluded that the developed nonwoven composites including hydroentangled and three-layered meltblown layers demonstrated superior sound absorption properties at low (changing between 48% and 70%) and moderate (ranging between 77% and 96%) sound frequencies, respectively, when compared to composites and materials including single-layer meltblown or nanofiber nonwoven structures reported in prior studies. Additionally, it can be inferred that the composite structures obtained in this study exhibited thermal resistance properties (0.49 to 0.73 m2K/W) comparable to those of commercial thermal insulation materials
A facile adsorbent using graphitic carbon nitride with silver and nickel (Ag/Ni@g-C3N4 nanocomposites) for Pb(II) extraction
No full textGraphitic carbon nitride (g-C3N4) embedded with silver (Ag) and nickel (Ni), forms Ag/Ni@g-C3N4 nanocomposites, and has been explored as a novel adsorbent in the dispersive solid phase microextraction (DSPME) for Pb(II) determination, utilizing flame atomic absorption spectroscopy (FAAS) technique. The synthesized nanocomposites were analyzed using different characterization techniques including; X-ray diffraction (XRD), scanning electron microscope coupled with energy dispersive x-ray (SEM-EDX), and Fourier-transform infrared spectroscopy (FTIR). To optimize the extraction process, several analytical parameters were adjusted such as: pH, used adsorbent quantity, adsorption/elution time, sample volume, eluent volume, and amount of elution solvent as 8, 5 mg, 60 sec /30 sec, 30 mL/ 2.5 mL, and 0.5 mol/L HNO3, respectively, based on the recoveries of Pb(II). Matrix effects were also examined to ensure the accuracy of the method. The method's limit of detection (LOD) was 0.270 µg/L, the limit of quantification (LOQ) was 0.91 µg/L, and the preconcentration factor (PF) was 12. The percent relative standard deviation (%RSD) was below 10 %, and the coefficient of determination (R2) was 0.9952, indicating good precision and linearity. The accuracy of the method was confirmed by analyzing certified reference materials (CRMs). The concentration of Pb(II) in various dietary samples, and tap and industrial wastewater samples were determined by using the presented microextraction procedure
Deep eutectic solvent-based ferrofluids: Synthesis strategies, characteristics, and applications for trace analytes extraction
No full textDeep eutectic solvent-based ferrofluids (DES-based FFs) are a novel type of magnetic material that shows great potential as extraction solvents in analytical chemistry. They are particularly useful for extracting, separating, and analyzing trace analytes from complex matrices. This is due to their distinctive properties, including magnetic separation, tunability, high efficiency, environmental friendliness, stability, enhanced mass transfer, reusability, and compatibility with various analytical methods. As a result, they are a highly attractive option for modern extraction processes. The current review paper briefly discusses the principles of DES and magnetic DES. Subsequently, this study examines and discusses various sub-categories of DES-based FFs, including different magnetic materials and types of DES. This is followed by an evaluation of the physical and chemical features of DES-based FFs. Furthermore, the utilization of this novel extraction solvent in sample preparation processes is evaluated. Lastly, this review paper examines the difficulties and potential future developments associated with utilizing DES-based FFs as extraction solvents
Crystal structure and Hirshfeld surface analysis of (3aRS,4RS,10SR,10aSR)-2-(3,5-dimethylphenyl)-4-hydroxy-10-methyl-1-oxo-2,3,3a,4,10,10ahexahydro-1H-[1]benzofuro[2,3-f]isoindole-10-carboxylic acid dimethylformamide monosolvate
No full textThe molecular conformation of the title compound, C24H23NO5·C3H7NO, is consolidated by intramolecular C—H· · ·O O—H· · ·O hydrogen bonds, forming an S(6) ring motif. In the crystal, the molecules are connected by C—H· · ·O hydrogen bonds, forming layers parallel to the (101) plane. Furthermore, the molecules form layers parallel to the (102) plane by C—H· · ·π interactions. Important intermolecular interactions highlighted by Hirshfeld surface analysis are H· · ·H (54.7%), O· · ·H/H· · ·O (23.0%), and C· · ·H/H· · ·C (19.9%) contacts
