Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.
This study aims to derive a general relation between line loads that acting on two-way slab system and the equivalent uniformly distributed loads. This relation will be so useful to structural designer that are used to working with a uniformly distributed load and enable them to use the traditional methods for analysis of two-way systems (e.g. Direct Design Method). Two types of slab systems, Slab System with Beams and Flat Slab Systems, have been considered in this study to include the effect of aspect ratio and type of slab on the proposed relation. Five aspect ratios, l2/l1 of 0.5, 0.75, 1.0, 1.5 and 2.0, have been considered for both types of two-way systems.
All necessary finite element analyses have been executed with SAFE Soft
The tourism industry has become, currently, an art, an industry and a science. It is also one of the components that make up touristic regions. Tourist attractions are no longer the exclusive visits of museums and archeological sites, but also involve other service facilities. It is, therefore, imperative that the authorities should become aware of the degradation of tourist resorts and prevent them from getting worse. Moreover, the authorities should take a set of decisions concerning the protection of the urban aspect with its historical, social, and environmental dimensions, as well as, adapting it to the modern requirements that can bring comfort to the citizens and tourists at physical and psychological levels.
Endophytic bacteria produced analogous secondary metabolites of their hosts. Similarly, the ability to generate antioxidants is not an exception. Dragon scales (Pyrrosia piloselloides), an epiphytic plant of the Polypodiaceae family, are frequently overlooked. This research aims to isolate antioxidant-producing bacteria from dragon-scale fern leaves. The antioxidant activities were tested after the extraction procedure using ethanolic extract. Bacteria were characterized and selected as candidates for antioxidant production by screening for the production of total phenolic compounds. Antioxidant levels were determined utilizing the ABTS, FRAP, and DPPH techniques. The preliminary findings of the entire phenolic compound test rev
... Show MoreBackground: Treatment of malocclusions using removable orthodontic appliances may prepare new stagnant areas susceptible for colonization and retention of Candida species, therefore; the aim of this study was to investigate the effect of upper removable orthodontic appliances on the mucosal Candidal count in group of apparently healthy orthodontic patients. Materials and Methods: Patients enrolled in this study were children aged 8-12 years having upper removable orthodontic appliances. Candidal counts at six mucosal sites were estimated using Imprint Culture method before, 14 and 28 days during orthodontic therapy. Results: Whole mouth and individual mucosal sites for Candidal counts increase significantly during treatment with upper remov
... Show MoreThe direct application of cold atmospheric plasma (CAP) is the main scope of plasma medicine in or on the organism for curative purposes. Cold plasma is both effective in disrupting a wide range of microorganisms including multiple drug resistant ones (MDRs) and to stimulate proliferation of mammalian cells. It has obtained by Floating Electrode Dielectric Barrier Discharge (FE-DBD) system. The present study aimed to show the effected of cold plasma on the fertility hormones LH, Prolactin, Estrogen, and Testosterone hormones for healthy adult female rats (Albino) / bulb c). There are divided into many groups according to time exposure of plasma (15, 30, 60, and 90 second) and a refere