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.
Staphylococcus Sp.is the most common type of bacteria found in contamination place, we design this
study to compare the contamination accident between two hospitals in Baghdad.One of them isthe Burns
Specialist Hospital in the Medical CityinRusafa and another one is Al-Karama Hospital in Karkh. The
samples were collected fromOperativeWard No1 (OW1), Operative Ward No2 (OW2), Consulting Pharmacy
(CP), Emergency Room (ER), Reception Room (RR), Women's Ward (WW) and Men's Ward (MW).The
samples were taken from inside each clinical unit, surfaces, food, and air. The results showed that the
number of samples containing Staphylococcus sp. bacteria is 81, including 45 belonging to Al-Karama Burns
Ward Ho
In this study, Zinc oxide nanostructures were synthesized via a hydrothermal method by using zinc nitrate hexahydrate and sodium hydroxide as a precursor. Three different annealing temperatures were used to study their effect on ZnO NSs properties. The synthesized nanostructure was characterized by X-ray diffraction (XRD), field emission scanning electron microscopy (FESEM), Atomic force microscope (AFM), and Fourier Transform Infrared Spectroscopy (FTIR). Their optical properties were studied by using UV -visible spectroscopy. The XRD analysis confirms that all ZnO nanostructures have the hexagonal wurtzite structure with average crystallite size within the range of (30.59 - 34
... Show MoreIn this study, aluminum nanoparticles (Al NPs) were prepared using explosive strips method in double-distilled deionized water (DDDW), where the effect of five different currents (25, 50, 75, 100 and 125 A) on particle size and distribution was studied. Also, the explosive strips method was used to decorate zinc oxide particles with Al particles, where Al particles were prepared in suspended from zinc oxide with DDDW. Transmission electron microscopy (TEM), UV-visible absorption spectroscopy, and x-ray diffraction are used to characterize the nanoparticles. XRD pattern were examined for three samples of aluminum particles and DDDW prepared with three current values (25, 75 and 125 A) and three samples prepared with the same currents for zin
... Show MoreBackground: The prevalence of systemic lupus erythematosus (SLE) patients is rising in Iraq. Adherence to medications among SLE patients remains a significant problem, and nonadherence can lead to decreased quality of life (QoL) and poor disease outcomes. Objectives: To determine the efficacy of pharmacist interventions in enhancing medication adherence, QoL, and self-efficacy among SLE patients. In addition, to assess the influence of pharmacist intervention on the uptake and willingness to take the flu vaccine among patients with SLE. Methods: A pharmacist intervention study was conducted at the Rheumatology Unit in Baghdad Teaching Hospital. Participants obtained educational counseling and a self-assembled booklet. Each patient p
... Show MoreThis paper shows that there are few studies on errors and difficulties with unstressed pronouns in Spanish. Similarly, when consulting teaching methods, we find that the most consulted texts are ELE manuals. In this sense, the purpose of this paper is to verify the teaching proposal regarding unstressed pronouns in the ELE manuals most used at the Faculty of Languages - University of Baghdad, Iraq. It is urgently needed for ELE teachers in Iraq and students to obtain the most recent ELE manuals, as this will help them teach and learn about unstressed pronouns with texts that contain more didactic and engaging exercises. Furthermore, teachers will be able to plan strategies and lessons for the correct use of these texts.
We refer in this research into linguistic binaries, try rounding of simiaei news analysis. It is known that there are branches of Linguistics called social Linguistics, divided into communicative Linguistics and media. Perhaps the best justification for the inclusion of a new curriculum in media studies is a semiotic analysis of the news. I›ve turned the speech, language and communication studies in relation to different disciplines, many research projects, and returned only old curriculum, speed shift in thought, proportional to the revolution in information and communication technology, for reality imposed on the entire world, researchers are the first affected by this enormous humanitarian Almanza. Alsimiaaeon still shy away from an
... Show MoreAn energy and exergy thermodynamic analysis using EES program was done for a domestic refrigerator working with R-134a using vapor compression refrigeration cycle. The analysis deals with the system component, i.e. compressor, condenser, evaporator and the expansion device. The analysis depends on the entropy generation minimization approach to improve the refrigerator performance by exploring the optimum design points. These design points were derived from three different theories governing the entropy generation minimization using exergy analyzing method. These theories were first applied to find the optimum balance between the hot inner condenser area and the cold inner evaporator area of the refrigerator and between
... Show MoreTo investigate the antiplaque and antigingivitis efficacy in addition to evaluating side effects and subjects’ perceptions of three commercially available mouthwashes.
This study was a double‐blind, parallel, and short‐term trial. A total of 75 dental students with biofilm‐induced gingivitis were included in the final analysis of the current study. Clinical parameters (plaque index and bleeding on probing) and the staining effect were measured at baseline and after 7 days. In addition, a VAS‐based assessment questionnaire was completed by the participants.