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.
Hypertension is a major health problem throughout the world because of its high prevalence and its association with increased risk of cardiovascular diseases. It is defined as systolic blood pressure ≥ 140 mmHg and/or diastolic blood pressure ≥ 90 mmHg. The aim of this study was to compare the efficacy, safety and cardiovascular disease risk lowering ability, of three antihypertensive drug regimens.
A retrospective study was carried out on 66 hypertensive patients, divided in to three groups based on their antihypertensive drug regimens (ACE inhibitors, β-blockers treated and combination antihypertensive therapy, the combination therapy consist of two or more of the following antihypertensive drugs ACE inhibitor di
... Show MoreIn this investigation, Rayleigh–Ritz method is used to calculate the natural frequencies of rectangular isotropic and laminated symmetric and anti-symmetric cross and angle ply composite plate with general elastic supports along its edges. Each of the admissible functions here is composed of a trigonometric function and an arbitrary continuous function that is introduced to ensure the sufficient smoothness of the so-called residual displacement function at the edges. Perhaps more importantly, this study has developed a general approach for deriving a complete set of admissible functions that can be applied to various boundary conditions. Several numerical examples are studied to demonstrate the accuracy and convergence of the current s
... Show MoreIn this study, the modified Rayleigh-Ritz method and Fourier series are used to determine the thermal buckling behavior of laminated composite thin plates with a general elastic boundary condition applied to in-plane uniform temperature distribution depending upon classical laminated plate theory(CLPT). A generalized procedure solution is developed for the Rayleigh-Ritz method combined with the synthetic spring technique. The transverse displacement of the orthotropic rectangular plates is not a different term as a new shape expansion of trigonometric series. In this solution approach, the plate transverse deflection and rotation due to bending are developed into principle Fourier series with a sufficient smoothness auxi
... Show MoreThis study investigates the influence of asymmetric involute teeth profiles for helical gears on the bending stress. Theoretically, bending stress has been estimated in spur involute gears which have symmetric teeth profile by based on the Lewis, 1892 equation. Later, this equation is developed by, Abdullah, 2012. to determine the effect of an asymmetric tooth profile for the spur gear on the bending stress. And then these equations are applied with stress concentration factor once for symmetric and once other for asymmetric teeth profile. In this paper, the bending stresses for various types of helical gear with various types of asymmetric teeth profile are calculated numerically for defined the stress concentration fac
... Show MoreBackground: In young adults, multiple sclerosis is a prevalent chronic inflammatory demyelinating condition. It is characterized by white matter affection, but many individuals also have significant gray matter involvement. A double-inversion recovery pulse (DIR) pattern was recently proposed to improve the visibility of multiple sclerosis lesions. Objective: To find out how well a DIR sequence, FLAIR, and T2-weighted pulse sequences can find MS lesions in the supratentorial and infratentorial regions. Methods: A total of 37 patients with established diagnoses of multiple sclerosis were included in this cross-sectional study. Brain MRI was done using double inversion recovery, T2, and FLAIR sequences. The number of lesions was count
... Show MoreBlood samples were collected from (31) pregnant women infected with cytomegalovirus , also (15) blood samples were collected from congenitally infected infants, and (20),(15),(15) blood samples were collected from pregnant women ,non pregnant and infants, respectively, all of them were as control groups. CMV infection identified by using ELISA assay to detect specific CMV IgM & IgG in sera. The results of lymphocyte transformation showed a significant decrease when phytoheamagglutinin (PHA) used as stimulator, lymphocytes response in infected pregnant women was lower than that of non infected pregnant women as well as non pregnant women. Result also showed a significant decrease in the ability of lymphocyte division in healthy pregnant w
... Show MoreBackground: A Catheter-associated with candidiasis infection is the most common nosocomial infection and the objective of this work is to isolate and identify Candida species from catheterized patients by ordinary culture and PCR.Objective:To study the isolation and identification of Candida species from catheterized patients by culture media and polymerase chain reaction(PCR).Methods: One hundred and thirty five Candida species isolates were obtained from urine culture of catheterized specimens from male and female patients , During the period between October 2011 to April 2012 , attending AL-Ramadi general teaching Hospital. A quantitative urine culture for isolation and identification of Candida species was. The isolation of Candida s
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