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 severe acute respiratory syndrome coronavirus 2 (SARS-CoV 2) or 2019 novel coronavirus (2019-nCoV) is quickly spreading to the rest of the world, from its origin in Wuhan, Hubei Province, China. And becoming a global pandemic that affects the world's most powerful countries. The goal of this review is to assist scientists, researchers, and others in responding to the current Coronavirus disease (covid-19) is a worldwide public health contingency state. This review discusses current evidence based on recently published studies which is related to the origin of the virus, epidemiology, transmission, diagnosis, treatment, and all studies in Iraq for the effect of covid-19 diseases, as well as provide a reference for future research
... Show MoreAmong more than 200 different human papilloma viral genotypes, the association of low oncogenic risk-HPV genotypes have been recognized with a variety of oral, oropharyngeal, nasopharyngeal benign tumors as well as non-neoplastic polyposis and papillomas and adenoid hypertrophy. This prospective case- control study aims to determine the rate of DNA detection of HPV genotype 6/11 in nasopharyngeal adeno- tonsillar tissues from a group of patients subjected to adenoctomy for adenoid hypertrophy . A total number of nasopharyngeal adeno-tonsillar tissue specimens from pediatric patients with adenoid hypertrophy were enrolled; 40 nasopharyngeal adeno-tonsillar tissues from patients with adenoid hypertrophy, and 20 normal nasal tissue specimen
... Show MoreIntroduction: Cardiovascular diseases are the main cause of death among type 2 diabetic patients. Higher levels of plasminogen activator urokinase receptor have been found to predict morbidity and mortality across acute and chronic diseases in the common populace. This study aims to explore the role of serum plasminogen activator urokinase receptor levels as a cardiometabolic risk factor among type 2 diabetic Iraqi patients. Methods: Seventy type 2 diabetic patients (40 male and 30 female) (mean age: 46.20±7.56 years) participated in this study; 35 patients were with cardiovascular disease and 35 were without cardiovascular disease; their ages range was 40-55 years. In addition, 30 individuals who apparently healthy were selected a
... Show MoreKE Sharquie, AA Noaimi, RA Flayih, Am J Clin Res Rev, 2020 - Cited by 4
Background: Both bladder cancer and schistosomiasis are endemic in Egypt. The former has a unique epidemiological pattern, which has been linked to bladder infestation by Schistosoma. The last decades have witnessed a great reduction in the infection rate of schistosomiasis and a decline in the incidence and changes in the patterns of bladder cancer. Whether these changes are linked to each other or a co-incidence is a subject of investigations.
Method: Literature on epidemiological data of bladder cancer and Schistosoma in Egypt was searched for in Medline, Scopus, PubMed, and Google Scholar. Furthermore, a hand search for literature and reports released by the Egyptian government and involved agencies was perfo
... Show MoreThe 2011 Iraqi Measles Control Campaign had as its aim to improve immunization coverage among young adults' 17-24years and, in the longer term, prevention of measles epidemics. The aim of the study is estimation measles vaccination and revaccination efficacy by evaluate the seroprevalence of antibody and response to reimmunization in young adults. A previously vaccinated 189 young adult medical students were tested for measles specific IgG &IgM pre and post catch-up revaccination by using commercially available ELISA. To assess the seroprevalence of antibody response pre measles reimmunization in previously vaccinated young adults; 45 were found to be seronegative. To differentiate between primary and secondary vaccine failure, anti- mea
... Show MoreBackground: Coping skills play a vital role in managing the physical and psychological effects of breast cancer (BC). Despite improvements in early detection and treatment, Breast cancer survivors continue to face long-term challenges after diagnosis. Therefore, this study aims to evaluate the coping skills employed by breast cancer women in Iraq and to identify the sociodemographic, clinical, and psychological factors associated with these coping skills. Methods: A cross-sectional study was conducted among 244 breast cancer women in The Medical City Teaching Oncology Hospital, Baghdad, Iraq, from August 2023 to October 2023, coping skills and psychological factors were assessed using the BRIEF COPE-28, and Hospital Anxiety Depression scale
... Show MoreBackground: Dyslipidemia is defined as an abnormally high level of various lipids in the blood. It is considered a major risk for atherosclerosis and coronary artery disease. Genetic susceptibility can have a significant influence on the development and progression of dyslipidemia. ApoB-100 R3500Q mutation and ApoE variants are among those genetic risks for dyslipidemia. This study aims to assess the possible contribution of ApoB and ApoE variants on lipid profile among a group of early-onset ischemic heart disease (IHD) patients in comparison to a group of controls. Methods: Forty patients with dyslipidemia and early-onset IHD without chronic conditions likely to cause derangement of lipid levels were recruited to this case-control study
... Show MoreThe research deals with a very important topic, which is social security viewed in the context of criminal protection for state security and the challenges it faces after a decisive change in the methods of war. The research also presents a different division of the generations of wars. We limit ourselves to four of them based on the change in the strategic war objectives and not just the means of committing them. This is because these means are not suitable for describing the real changes in the patterns of wars and the goals that it seeks to achieve. The research stresses the importance of putting the concept of state security in its correct framework, which is part of social security, so that the interest of the political system and the
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