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.
Introduction: This study aimed to assess the color change of human teeth with artificial enamel white spot lesions (WSLs) after sandblasting with bioactive glass, resin infiltration, and microabrasion and to test color stability after pH cycling. Methods: Fifty extracted human mandibular first molars were randomly assigned into five groups: Sound, WSLs (untreated), and WSLs sandblasted with bioactive glass (Sylc), WSLs treated by resin infiltration (ICON), and WSLs treated by microabrasion (Opalustre), respectively. All specimens underwent a pH cycling procedure. The color parameters for each specimen were assessed using an Easyshade dental spectrophotometer at different time stages then the color changes (ΔE) were calculated. Results: The
... Show MoreTo use quality indicators to study the management of ST-segment elevation myocardial infarction (STEMI) in different regions.
Prospective cohort study of STEMI within 24 h of symptom onset (11 462 patients, 196 centres, 26 European Society of Cardiology members, and 3 affiliated countries). The median delay between arrival at a percutaneous cardiovascular intervention (PCI) centre and primary PCI was 40 min (interquartile range 20–74) with 65.8% receiving PCI
الاحداث السياسية في العراق بعد 2003 وأثر الانتماء والوعي في التشكيل العراقي المعاصر
This day, we see the Significant role that social media platforms play, it plays a vital role in shaping the Social, political, and economic awareness of individuals. The Iraqi Society, which is experiencing rapid cultural and social transformations, is considered a fertile ground for social media and its influences, whether negative or positive. Research and studies indicate that the negative use of social media will lead to weaking of the sense of belonging and citizenship among members of Iraqi society. This, in turn, threatens moral and educational values, increases feelings of family estrangement, and leads to social isolation. On the contrary, if social is used correctly, it can significantly contribute to enhancing educational values
... Show Morehe aim of the research is to clarify the meanings and connotations of (Semitic), and to identify the peoples that fell under this name according to historical data, biblical texts and Qur’anic news. International sympathy on the one hand and on the other hand controlling the land of Palestine and giving them international legitimacy to grow their entity according to global support and sympathy with their alleged slogan (anti-Semitism), which revolves around the oppression of the Jews.
A total number of 33 isolates of Pseudomoans aeruginosa were collected from different clinical samples, such as: burn, wound and urine from patients attending Al-Yarmouk teaching hospital and some private clinical laboratories in Baghdad city through the period from October to December 2016. On the other hand, 21 isolates of P. aeruginosa were collected from 38 different food samples; such as: vegetables and fruits, from different local markets in Baghdad city during the period from November to December 2016. All isolates were identified by using different bacteriological and biochemical assays and confirmed by Vitek-2 identification system. The antimicrobial susceptibility test for clinical and food isolates towards 17 antimicrobial a
... Show MoreThe adsorption process of 5-Fluorouracil (5FU) drugs on Aluminum nitride nanotubes surface (AlNNTs) have been evaluated through density functional theory (DFT). The DFT results show that the interaction of AlNNTs with the F atoms of 5FU drugs is strong due to the fact that the amount of adsorption energy was about − 29.65 kcal.mol−1. Conversely, the interaction of the 5FU through O atoms with the AlNNTs was weaker due to the lower value of adsorption energy. Also, based on the values of Gibbs free energy, the 5FU adsorption on the surfaces of AlNNTs was spontaneous. In addition, based on natural bond orbital (NBO) analysis, the direction of charge transfer was from fluorine’s σ orbitals of the drug to nitrogen’s and aluminum’s n*
... Show MoreWhat happened on the Iraq war in 2003 put the problematic about what can happen from a shift in the style of individual or collective in contemporary Iraqi art similar to what is known in the history of the modern art world.
It wanted the researcher to identify this dilemma in academic study looking for an explanation of this Alastfhamat from the entrance of the definitions shows laparoscopic destination, as it determines the address (b style in painting contemporary Aeraa before and after the war) was a comparative analysis, through a choice of two Iraqi artists who have production style known sets since before the war, in order to read the transformation that took place in art before and after their tactics, and in order to off
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