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: The association of olanzapine with hyperglycemia, an elevated lipid profile, and high blood pressure was early recognized after its approval and has become of increased concern. Objective: To determine the association of olanzapine use with blood sugar levels, lipid profiles, and blood pressure in hospitalized Iraqi patients with schizophrenia. Methods: A cross-sectional study involving 50 hospitalized patients with schizophrenia who met the Diagnostic and Statistical Manual of Mental Disorders (DSM)-V diagnostic criteria and had taken olanzapine for at least two years was carried out between November 2022 and February 2023 at two facilities in Baghdad, Iraq (Ibn Rushd Psychiatric Teaching Hospital and Al Rashad Hospital
... Show MoreIn this study, a novel application of lab-scale dual chambered air-cathode microbial fuel cell (MFC) has been developed for simultaneous bio-treatment of real pharmaceutical wastewater and renewable electricity generation. The microbial fuel cell (MFC) was provided with zeolite-packed anodic compartment and a cation exchange membrane (CEM) to separate the anode and cathode. The performance of the proposed MFC was evaluated in terms of COD removal and power generation based on the activity of the bacterial consortium in the biofilm mobilized on zeolite bearer. The MFC was fueled with real pharmaceutical wastewater having an initial COD concentration equal to 800 mg/L and inoculated with anaerobic aged sludge. Results demo
... Show MoreThe research aims to measure the sustainability of the Iraqi economy for the period 1990-2018 as well as to show the impact of fluctuations in the level of GDP on financial sustainability, where financial sustainability is the necessary and sufficient condition for achieving economic and financial balance in the country, as financial sustainability reflects the movement of the state budget and its relationship to GDP through the indicators of deficit, fiscal surplus and public debt internal and external, as well as reflecting the art of managing public debt, and the more managed public debt is achieved, the more the management of public debt is achieved financial sustainability. for the state in the sense that there is a reciprocal
... Show MoreFrom a large number of bacterial samples collected from different hospital in Iraq in central health laboratory ,only ten isolates were identified primary as Vibrio. A number of morphology and biochemical test were carried out to complete this identification that showed all bacterial isolates were related to Vibrio cholerae .In this study all Vibrio isolates were investigated for Bio typing and the result showed that all (10) isolate were related to (Eltor biotypes) .Also, the susceptibility test towards eight antibiotics were carried out .
Results shows that ciprofloxacin , Norfloxacin, Erythromycin, Ampicillin, ceftriaxone and Amikacin were the most effective
... Show MoreAcinetobacter baumannii received attention for its multi-drug resistant associated with many severe infections and outbreaks in clinical environment. The aims of the study are to investigate the antibiotic susceptibility profile of clinically isolated A. baumannii, biofilm production, and the efficiency of Low Frequency Ultrasound (LFU) and honey to attenuate biofilm production. A total of 100 samples were taken from different sources from Baghdad hospitals. The susceptibility patterns revealed the percentage of pan drug resistant (PDR) isolates were 1.5 %, 72.7 % were extended drug resistant (XDR), 16.7 % were multidrug resistant (MDR), and 9.1 % were non MDR and sensitive to most antibiotics used. The ability to form
... Show MoreHuman cytomegalovirus (CMV) is the globally highly prevalent herpesvirus worldwide. CMV infects populations of all ages according to the Center for Disease Control and Prevention (CDC) and World Health Organization (WHO). CMV infections remain the most common viral complication potentially multiple in humans and are a major cause of congenital normality in women, which is why they are critical for diagnosis in several times when it happens during pregnancy. Pregnant women with CMV infection can be in charge of abortion or congenital expandaedby. This study involves the collection a total of (90) samples taken from each aborted and pregnant woman (70 with abortion cases and 20 of pregnant without history of abortion as control subjects) r
... Show MoreSimulation experiments are a means of solving in many fields, and it is the process of designing a model of the real system in order to follow it and identify its behavior through certain models and formulas written according to a repeating software style with a number of iterations. The aim of this study is to build a model that deals with the behavior suffering from the state of (heteroskedasticity) by studying the models (APGARCH & NAGARCH) using (Gaussian) and (Non-Gaussian) distributions for different sample sizes (500,1000,1500,2000) through the stage of time series analysis (identification , estimation, diagnostic checking and prediction). The data was generated using the estimations of the parameters resulting f
... Show MoreBackground: Simultaneous and staged guided bone regeneration (GBR) is one of the several surgical techniques that have been developed in the past two decades to regenerate bone and thus to allow implant placement in compromised sites (fenestration and dehiscence). It is a surgical procedure that consists of the placement of a cell-occlusive physical barrier between the connective tissue and the alveolar bone defect. The treatment concept advocates that regeneration of osseous defects is predictably attainable via the application of occlusive membranes, which mechanically exclude non-osteogenic cell populations from the surrounding soft tissues, thereby allowing osteogenic cell populations originating from the parent bone to inhabi
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