Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. T

Central and Eastern European Online Library - CEE journals, documents, articles, periodicals, books available online for download, Zeitschrfitendatenbank, Online Zeitschriften, Online Zeitschriftendatenbank

Two compounds,[2-amino-4-(4-nitro phenyl) 1,3-thiazole],(4) and [2-amino-4-(4-bromo phenyl) 1,3-thiazole],(5), were synthesized by refluxing thiourea (1) with each of  para-ntiro and para-bomophanacyl bromides(2) and (3) respectively, in absolute methanol. Then, by reaction of [5] with 3,5-dinitrobenzoyl chloride in dimethylformamide (DMF) yielded  (6) .On the other hand, reaction of (4) with chloroacetyl chloride in dry benzene afforded (7), which is  upon treatment with thiourea in absolute methanol, af

Identifying the total number of fruits on trees has long been of interest in agricultural crop estimation work. Yield prediction of fruits in practical environment is one of the hard and significant tasks to obtain better results in crop management system to achieve more productivity with regard to moderate cost. Utilized color vision in machine vision system to identify citrus fruits, and estimated yield information of the citrus grove in-real time. Fruit recognition algorithms based on color features to estimate the number of fruit. In the current research work, some low complexity and efficient image analysis approach was proposed to count yield fruits image in the natural scene. Semi automatic segmentation and yield calculation of fruit

Metasurface polarizers are essential optical components in modern integrated optics and play a vital role in many optical applications including Quantum Key Distribution systems in quantum cryptography. However, inverse design of metasurface polarizers with high efficiency depends on the proper prediction of structural dimensions based on required optical response. Deep learning neural networks can efficiently help in the inverse design process, minimizing both time and simulation resources requirements, while better results can be achieved compared to traditional optimization methods. Hereby, utilizing the COMSOL Multiphysics Surrogate model and deep neural networks to design a metasurface grating structure with high extinction rat

This research presents an experimental investigation of the rehabilitation efficiency of the damaged hybrid reinforced concrete beams with openings in the shear region. The study investigates the difference in retrofitting ability of hybrid beams compared to traditional beams and the effect of two openings compared with one opening equalized to two holes in the area. Five RC beams classified into two groups, A and B, were primarily tested to full-failure under two-point loads. The first group (A) contained beams with normal weight concrete. The second group (hybrid) included beams with lightweight concrete for web and bottom flange, whereas the top flange was made from normal concrete. Two types of openings were considered in this s

To investigate the flexural behavior of self-consolidating hybrid fiber-reinforced concrete beams containing voids experimentally, six RC beams were tested, one solid without fiber and the others containing hooked-steel and macro-polypropylene fibers with a volume fraction of 1 and 0.5%, respectively. One of the five fibrous beams was solid; two contain a series of recycled plastic balls of diameters 110 and 120 mm, and another two contain a single longitudinal circular void created by PVC pipes of diameters 90 and 110 mm. The flexural behavior of the beams was assessed depending on the load-deflection curve, load-strain curve, ductility, toughness, stiffness, and crack patterns. The experimental outcomes showed that all the tested