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.
Chronic liver disease (CLD) can potentially cause disruptions in the normal functioning of various endocrine organs responsible for producing hormones. As a result, individuals suffering from CLD may experience fluctuations or imbalances in the levels of certain hormones within their bodies. As well as they frequently have suppressed immune systems making them more vulnerable to parasite infections. The primary objective of this study was to investigate the association between Toxoplasma gondii infections and liver function by analyzing the interplay between these parasites and hormones. This study was conducted in Baghdad, Iraq from December 2021 to May 2022. One hundred and twenty male patients with Chronic liver disease (CLD) (ag
... Show MoreKE Sharquie, JR Al-Rawi, AA Noaimi, MM Jabir, Iraqi Postgraduate Medical Journal, 2009
S Khalifa E, AR Jamal R, N Adil A, J Munqithe M…, 2009
A load flow program is developed using MATLAB and based on the Newton–Raphson method,which shows very fast and efficient rate of convergence as well as computationally the proposed method is very efficient and it requires less computer memory through the use of sparsing method and other methods in programming to accelerate the run speed to be near the real time.
The designed program computes the voltage magnitudes and phase angles at each bus of the network under steady–state operating conditions. It also computes the power flow and power losses for all equipment, including transformers and transmission lines taking into consideration the effects of off–nominal, tap and phase shift transformers, generators, shunt capacitors, sh
In this study, the results of x-ray diffraction methods were used to determine the Crystallite size and Lattice strain of Cu2O nanoparticles then to compare the results obtained by using variance analysis method, Scherrer method and Williamson-Hall method. The results of these methods of the same powder which is cuprous oxide, using equations during the determination the crystallite size and lattice strain, It was found that the results obtained the values of the crystallite size (28.302nm) and the lattice strain (0.03541) of the variance analysis method respectively and for the Williamson-Hall method were the results of the crystallite size (21.678nm) and lattice strain (0.00317) respectively, and Scherrer method which gives the value of c
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The varied applications of polystyrene in various fields of life led to examining the cause of radiation influence on some rheological behavior of commercial Polystyrene (PS) solution in the chloroform (CHCl3) solvent. Polystyrene grains shape samples were irradiated using the radioactive element Cesium- 137 with (9 µci) activity for 10, 20, and 30 minutes. The viscosity of the polymer solution depends on the concentration and size (i.e. molecular weight) of the dissolved polymer. Experimental data showed that the radiation dose affected the value of viscosity (shear, relative, specific, and reduced). The viscosity value significantly reduced at 10 min radiation dose and when increasing the dose, the viscosity value increased
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