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: osteoporosis is characterized by a reduction in bone mineral density, skeletal microstructure breakdown, increased bone fragility, and fracture susceptibility. Osteopenia is the preceding step to osteoporosis because it causes a decrease in bone mass, osteoporosis reduces a person's quality of life. Periostin (encoded by Postn), its name is derived from the fact that it was first detected in periosteal osteocytes and osteoblasts. Periostin deficiency has been linked to osteoporosis and weak bones. Study objectives: The purpose of this study was to determine periostin levels in serum of Iraqi patients with osteoporosis and osteopenia, and it is also possible to consider periostin as a diagnostic factor to follow the progression o
... Show MoreRecently, women's rape has been a pervasive problem in the Iraqi society. Thus, it has become necessary to consider the role of language and its influence on the common beliefs and opinions about rape in the Iraqi society. Thus, taking into consideration the critical role of language and its impact on the perception of human reality and the social development based on people's beliefs and principles of life has become highly indispensable. Therefore. The aim of this article is to address this problem critically from legislation and social norms in NGOs' reports (2015; 2019) with reference to some provisions from the Iraqi Panel Code (1969; 2010). Therefore, the researchers examine the discursive strategies and ideological viewpoints in t
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Biosimilars are non-innovative copy versions of biologic medicines which are proven to be clinically equivalent to, as effective and as safe as their reference biologics. Biosimilars creates opportunities for cost savings for payers, governments, and patients compared with the reference products. Pharmacist plays an essential role in developing biosimilar medicines from manufacturing to post-marketing pharmacovigilance monitoring. The aim of the current study was to explore the level of knowledge, behaviors and practices of a sample of Iraqi pharmacists towards biosimilar medicines. The current study was a cross sectional, carried out during May 2020. A total of 2
... Show MoreAPDBN Rashid, International Journal of Humanities and Social Sciences/ RIMAK, 2023
The researchers of the present study have conducted a genre analysis of two political debates between American presidential nominees in the 2016 and 2020 elections. The current study seeks to analyze the cognitive construction of political debates to evaluate the typical moves and strategies politicians use to express their communicative intentions and to reveal the language manifestations of those moves and strategies. To achieve the study’s aims, the researchers adopt Bhatia’s (1993) framework of cognitive construction supported by van Emeren’s (2010) pragma-dialectic framework. The study demonstrates that both presidents adhere to this genre structuring to further their political agendas. For a positive and promising image
... Show MoreFluorescent proteins (FPs) have revolutionised the life sciences, but the chromophore maturation mechanism is still not fully understood. Here we photochemically trap maturation at a crucial stage and structurally characterise the intermediate.
The toxicological risks and lifetime cancer risks associated with exposure to disinfection by-products (DBPs) including Halloacetic acids (HAAs) and trihalomethanes (THMs) compounds by drinking water in several districts in Wassit Province were estimated. The seasonal variation of HAAs and THMs compounds in drinking water have indicated that the mean values for total HAAs (THAAs) and total THMs (TTHMs) ranged from 43.2 to 72.4 mg/l and from 40 to 115.5 mg/l, respectively. The World health organization index for additive toxicity approach was non-compliant with the WHO guideline value in summer and autumn seasons and this means that THMs concentration has adverse toxic health effects. The multi-pathway of lifetime hu
... Show MoreObjectives: Semen analysis is the cornerstone for the valuation of the male partner in the infertile couples. This test has been standardized throughout the world through the World Health Organization (WHO) since the1970s by producing, editing, updating, and disseminating a semen analysis manual and guidelines. A retrospective study to give an insight about male infertility. Methods: This retrospective study assessed the semen findings of 1000 men evaluated at the Department of Urology, Al-Kindy Teaching Hospital in Baghdad-Iraq between January 2016 and May 2019. Semen analysis were done for them. Results: According to WHO standard for semen normality, 1000 samples that were analyzed, normospermia was shown in 835 (83.5%)males
... Show MoreThe fatty acids in the embryo's liver at ages (7, 11, 14 and 19) days incubation, small chicken aged (14) days after hatching and adult were analyzed, and found (5) fatty acids, the highest concentration of fatty acid in the adult of domesticated chicken and lowest concentration in small chicken age (14) days after hatching. Statistically, there were high significant differences at the probability level (P≤0.001) between all ages together, and the highest concentrations of Oleic acid (C18:1) and Linoleic acid (C18:2) were in embryo age (7) days incubation, while in embryo age (11) days incubation Stearic acid (C18:0) and α-Linolenic acid (C18:3) were higher concentration and Palmitic acid (C16:0) was the highest concentration in the adul
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