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.
The current research deals with short term forecasting of demand on Blood material, and its' problem represented by increasing of forecast' errors in The National Center for Blood Transfusion because using inappropriate method of forecasting by Centers' management, represented with Naive Model. The importance of research represented by the great affect for forecasts accuracy on operational performance for health care organizations, and necessity of providing blood material with desired quantity and in suitable time. The literatures deal with subject of short term forecasting of demand with using the time series models in order to getting of accuracy results, because depending these models on data of last demand, that is being sta
... Show MoreIn this paper, a new technique is offered for solving three types of linear integral equations of the 2nd kind including Volterra-Fredholm integral equations (LVFIE) (as a general case), Volterra integral equations (LVIE) and Fredholm integral equations (LFIE) (as special cases). The new technique depends on approximating the solution to a polynomial of degree and therefore reducing the problem to a linear programming problem(LPP), which will be solved to find the approximate solution of LVFIE. Moreover, quadrature methods including trapezoidal rule (TR), Simpson 1/3 rule (SR), Boole rule (BR), and Romberg integration formula (RI) are used to approximate the integrals that exist in LVFIE. Also, a comparison between those methods i
... Show MoreIn this study, we used Bayesian method to estimate scale parameter for the normal distribution. By considering three different prior distributions such as the square root inverted gamma (SRIG) distribution and the non-informative prior distribution and the natural conjugate family of priors. The Bayesian estimation based on squared error loss function, and compared it with the classical estimation methods to estimate the scale parameter for the normal distribution, such as the maximum likelihood estimation and th
... Show MoreFor more than a decade, externally bonded carbon fiber reinforced polymer (CFRP) composites successfully utilized in retrofitting reinforced concrete structural elements. The function of CFRP reinforcement in increasing the ductility of reinforced concrete (RC) beam is essential in such members. Flexural and shear behaviors, ductility, and confinement were the main studied properties that used the CFRP as a strengthening material. However, limited attention has been paid to investigate the energy absorption of torsion strengthening of concrete members, especially two-span concrete beams. Hence, the target of this work is to investigate the effectiveness of CFRP-strengthening technique with regard to energy absorption of two-span RC
... Show MoreA modified chemical method was used to prepare titanium dioxide nanoparticles (TiO2 NPs), which were diagnosed by several techniques: X-ray diffraction, Fourier transform infrared, field emission scaning electron microscopy, energy disperse X-ray, and UV-visible spectroscopy, which proved the success of the preparation process at the nanoscale level. Where the titanium oxide particles have an average particle size equal to 6.8 nm, titanium dioxide particles were used in the process of adsorption of Congo red dye from its aqueous solutions using a batch system. The titanium oxide particles gave an adsorption efficiency of Congo red dye up to more than 79 %. The experimental data of the adsorption process were analyzed with kinetic models and
... Show MoreCopper oxide (CuO) nanoparticles were synthesized through the thermal decomposition of a copper(II) Schiff-base complex. The complex was formed by reacting cupric acetate with a Schiff base in a 2:1 metal-to-ligand ratio. The Schiff base itself was synthesized via the condensation of benzidine and 2-hydroxybenzaldehyde in the presence of glacial acetic acid. This newly synthesized symmetric Schiff base served as the ligand for the Cu(II) metal ion complex. The ligand and its complex were characterized using several spectroscopic methods, including FTIR, UV-vis, 1H-NMR, 13C-NMR, CHNS, and AAS, along with TGA, molar conductivity and magnetic susceptibility measurements. The CuO nanoparticles were produced by thermally decomposing the
... Show Moreيصف هذا البحث الإنتاج الصديق للبيئة لجسيمات النحاس النانوية باستخدام مستخلص نبات الجرجير والحرق عند درجة حرارة 400 درجة مئوية لمدة 3 ساعات. تم استخدام SEM و TEM لتحليل حجم الجسيمات النانوية المحضرة. تم استخدام حيود الأشعة السينية لتحديد الهيكل البلوري. كشف التحليل الطيفي للأشعة السينية المشتتة للطاقة لهيكل المنتج الذي تم إنشاؤه عن مكونات النحاس والأكسجين فقط ، مما يدل على نقاء المادة المحضرة. استخدمت الماد
... Show MoreCopper oxide (CuO) nanoparticles were synthesized through the thermal decomposition of a copper(II) Schiff-base complex. The complex was formed by reacting cupric acetate with a Schiff base in a 2:1 metal-to-ligand ratio. The Schiff base itself was synthesized via the condensation of benzidine and 2-hydroxybenzaldehyde in the presence of glacial acetic acid. This newly synthesized symmetric Schiff base served as the ligand for the Cu(II) metal ion complex. The ligand and its complex were characterized using several spectroscopic methods, including FTIR, UV-vis, 1H-NMR, 13C-NMR, CHNS, and AAS, along with TGA, molar conductivity and magnetic susceptibility measurements. The CuO nanoparticles were produced by thermally decomposing the
... Show MoreBackground and Aim: due to the rapid growth of data communication and multimedia system applications, security becomes a critical issue in the communication and storage of images. This study aims to improve encryption and decryption for various types of images by decreasing time consumption and strengthening security. Methodology: An algorithm is proposed for encrypting images based on the Carlisle Adams and Stafford Tavares CAST block cipher algorithm with 3D and 2D logistic maps. A chaotic function that increases the randomness in the encrypted data and images, thereby breaking the relation sequence through the encryption procedure, is introduced. The time is decreased by using three secure and private S-Boxes rather than using si
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