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.
In this paper the method of singular value decomposition is used to estimate the ridge parameter of ridge regression estimator which is an alternative to ordinary least squares estimator when the general linear regression model suffer from near multicollinearity.
Abstract
Robust controller design requires a proper definition of uncertainty bounds. These uncertainty bounds are commonly selected randomly and conservatively for certain stability, without regard for controller performance. This issue becomes critically important for multivariable systems with high nonlinearities, as in Active Magnetic Bearings (AMB) System. Flexibility and advanced learning abilities of intelligent techniques make them appealing for uncertainty estimation. The aim of this paper is to describe the development of robust H2/H∞ controller for AMB based on intelligent estimation of uncertainty bounds using Adaptive Neuro Fuzzy Inference System (ANFIS). Simulatio
... Show MoreThis study was undertaken to provide more insight on the optimum injection temperature used for the production of PE crates, thereby saving time and money, and improving part quality. The work included processing trails of HDPE crates in an injection
molding machine at five temperatures ranged from 220 to 300°C. Both Rheological and mechanical characterization was conducted in order to understand the effect of injection temperature on the properties of crates. Oven aging was also applied for (4 weeks) to evaluate the long-term thermal stability. The results revealed that producing the crates at a temperature range of (260-280 °C) gives the best rheological and mechanical result. The lowest drop in thermal stability has been observed
Elemental capture spectroscopy (ECS) is an important tool in the petroleum industry for determining the composition and properties of rock formations in a reservoir. Knowledge of the types and abundance of different minerals in the reservoir is crucial for accurate petrophysical interpretation, reservoir engineering practices, and stratigraphic correlation. ECS measures the elemental content of the rock, which directly impacts several physical properties that are essential for reservoir characterization, such as porosity, fluid saturation, permeability, and matrix density. The ability to accurately determine these properties leads to better reservoir mapping, improved production, and more effective resource management. Accurately de
... Show MoreSnS nanobelt thin films were deposited on glass substrates in acidic solution by chemical bath deposition (CBD) method. The belt-like morphologies of as-deposited SnS thin films were characterized by scanning electron microscope (SEM) and transmission electron microscopy (TEM). X-ray diffraction (XRD) and Raman measurements were carried out to confirm the crystal structures and phase purities of SnS nanobelt thin films. The morphologies and phase purities of SnS thin films were influenced greatly by the tin and sulfur precursors. The bandgaps of SnS nanobelts were determined to be 1.39–1.41 eV by UV–vis absorption and photoluminescence (PL) spectra. Current-voltage ((I-V)) and current-time ((I-T)) characteristics were studied to demon
... Show MoreBackground: Asthma is one of the most common chronic respiratory diseases in the world, standing for the most frequent cause for hospitalization and emergency cases. Respiratory viruses are the most triggering cause. Aim: To assess the role of viral infections, especially COVID-19, in the pathogenesis of asthma initiation and exacerbations. Method: Electronic search was done for the manuscripts focusing on asthma as a risk factor for complications after COVID-19 infection. The outcomes were titles, materials, methods and classified studies related or not related to the review study. Three hundred publications were identified and only ten studies were selected for analysis. Seven studies were review, one retrospective, one longitudin
... Show MoreSolubility problem of many of effective pharmaceutical molecules are still one of the major obstacle in theformulation of such molecules. Candesartan cilexetil (CC) is angiotensin II receptor antagonist with very low water solubility and this result in low and variable bioavailability. Self- emulsifying drug delivery system (SEDDS) showed promising result in overcoming solubility problem of many drug molecules. CC was prepared as SEDDS by using novel combination of two surfactants (tween 80 and cremophore EL) and tetraglycol as cosurfactant, in addition to the use of triacetin as oil. Different tests were performed in order to confirm the stability of the final product which includes thermodynamic study, determination of self-emulsificat
... Show MoreThis paper presents a numerical analysis using ANSYS finite element program to simulate the reinforced concrete slabs with spherical voids. Six full-scale one way bubbled slabs of (3000mm) length with rectangular cross-sectional area of (460mm) width and (150mm) depth are tested as simply supported under two-concentrated load. The results of the finite element model are presented and compared with the experimental data of the tested slabs. Material nonlinearities due to cracking and crushing of concrete and yielding of reinforcement are considered. The general behavior of the finite element models represented by the load-deflection curves at midspan, crack pattern, ultimate load, load-concrete strain curves and failure m
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