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.
Background: Non-small cell lung cancer (NSCLC) is caused of 85% of all lung cancers. Among the most important factors for lung tumor growth and proliferation are the tyrosine kinase receptors that coded by the epidermal growth factor recep-tor (EGFR) gene. Activation of EGFR ultimately leads to developing of lung cancer. The present study was undertaken with an objective to detect EGFR mutations in bronchial wash from Iraqi patients with NSCLC before treatment. Methods: DNA was extracted from bronchial wash samples collected from 50 patients with NSCLC by using a Qiamp DNA Mini Kit (Qiagen, Hilden, Germany). Then, EGFR mutations were determined by using real-time RCR combined with two technologies, Amplification Refractory Mutation System (
... Show MoreBreast carcinoma is one of the greatest popular neoplasms in females. It is a major reason of demise in the world, and it is the first cancer in ranking diagnosed in Iraqi women. This study aimed to determine aminoacyltRAN-synthetase complex interacting multifunctional protein 1 and liver enzymes levels in Iraqi females with stage II breast malignance, and study the effect of chemotherapy (after surgery) on these markers. This study included 50 females patients with stage II breast malignance (before and after surgery and second dose of chemotherapy) attending the Oncology Teaching Hospital in Medical City/ Baghdad, in addition to 20 persons as controller group were chosen without any chronic diseases. Their ages ranged from (30-55) years.
... Show MoreMutations in genes encoding proteins necessary for detoxifying oxidative stress products have been predicted to increase susceptibility to lung cancer (LC). Despite this, the association between waterpipe tobacco smoking (WP), genetic polymorphisms, and LC risk remains poorly understood. This is the first study to explore the relationship between WP tobacco smoking and these genetic factors. Previously, we investigated the association of GSTP1 SNPs (rs1695-A/G and rs1138272-C/T) with LC in Iraqi males who smoke WP. Here, we expanded our analysis to include GSTM1 (active/null) and GSTT1 (active/null) genotypes, both individually and in combination with GSTP1 SNPs. Multiplex PCR and RFLP-PCR assays were utilized to determine the genotypes of
... Show MoreIn this study used three methods such as Williamson-hall, size-strain Plot, and Halder-Wagner to analysis x-ray diffraction lines to determine the crystallite size and the lattice strain of the nickel oxide nanoparticles and then compare the results of these methods with two other methods. The results were calculated for each of these methods to the crystallite size are (0.42554) nm, (1.04462) nm, and (3.60880) nm, and lattice strain are (0.56603), (1.11978), and (0.64606) respectively were compared with the result of Scherrer method (0.29598) nm,(0.34245),and the Modified Scherrer (0.97497). The difference in calculated results Observed for each of these methods in this study.
Leuciscidae species are the abundant and widely distributed fish species in Iraq's inland waters. They are complex species, and morphology makes them difficult to identify. Molecular analysis achieved and confirmed the morphological characters. Twenty specimens of Acanthobrama marmid were collected from two localities at Tigris River, in the middle of Iraq; 15 specimens from the Al-Zubaydia sub-district and five specimens from Al-Tharthar Lake. We used the mitochondrial DNA cytochrome b (cytb) gene to sequence the DNA of A. marmid. The following analysis are compared the sequences with those of other fish genera and species found in the Gene Bank. The barcoding result (DNA sequencing) in fishes found in the same family (Leuciscidae) showed
... Show MoreSteel-concrete-steel (SCS) structural element solutions are rising due to their advantages over conventional reinforced concrete in terms of cost and strength. The impact of SCS sections with various core materials on the structural performance of composites has not yet been fully explored experimentally, and in this work, both slag and polypropylene fibers were incorporated in producing eco-friendly steel-concrete-steel composite sections. This study examined the ductility, ultimate strength, failure modes, and energy absorption capacities of steel-concrete-steel filled with eco-friendly concrete, enhanced by polypropylene fiber (PPF) to understand its impact on modern structural projects. Eco-friendly concrete was produced by the partial
... Show MoreType 1 diabetes (T1D) is an autoimmune disease with chronic nature resulting from a combination of both factors genetic and environmental. The genetic contributors of T1D among Iraqis are unexplored enough. The study aimed to shed a light on the contribution between genetic variation of interleukin2 (IL2) gene to T1D as a risk influencer in a sample of Iraqi patients. The association between IL2−330 polymorphism (rs2069762) was investigated in 322 Iraqis (78 T1D patients and 244 volunteers as controls). Genotyping for the haplotypes using polymerase chain reaction test – specific sequence primer (PCR-SSP) for (GG, GT, and TT) genotypes corresponding to (G and T) alleles were performed. A significant association revealed a decreased freq
... Show MoreThe condition known as hypothyroidism is common in women, even in those who are fertile. The quantity and caliber of follicles present in the ovary at any one moment are known as the ovarian reserve. Individuals who are susceptible to a decreased ovarian reserve ought to have an assessment of their ovarian reserve conducted. The purpose of this research is to assess the impact of hypothyroidism on Iraqi women's ovarian reserve using Inhibin B hormone and hormone tests FSH, LH. There was no discernible variation in the average (±SD) age from (20 to 40) years of the patient group compared to the control group (p-value 0.08). However the mean BMI of the patients were statistically significantly different from the controls (P- value 0.006).Wom
... Show MoreNA Nasir, SHM Ali, HQMA AL-Ess, WA Hussein, MKW Al-Janabi, KIA Mohammed, JM Mosa, Euromediterranean Biomedical Journal, 2020