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.
Most medical books and researches documented that increased body weight is a predisposing factor to hypertension , and there is recent work in this field as well. In this research , the relationships between hypertension and body weight with age were studied in Iraqi population . It is concluded that diastolic hypertension is separated from systolic and combined hypertension and increased body weight has little effect on increased blood pressure.
The musical templates are the fundamental reason for admiration and interest among a lot of cultural and societal medias because of the beauty of it's melodic value, where a lot of Iraqi singing and music specialists and composers try to consolidate daily life idea and translate it into music in a manner that preserve the template and rhythm horizontally and vertically, through the involvement of the scientific and philosophical concepts and theories of modern thought to reach the recipient,, as is the theory of form (Gestalt), one of the most important theories that stretched to their interpretations to the field in general art and in music science, especially, as an area that can be manifested as partial components template music, conn
... Show MoreThis study shows impoliteness as a form of face-threatening that can be intentionally caused by verbal threats in a particular setting. It investigates: what strategies and mitigators do Iraqi-Kurdish English as a foreign language (EFL) learners use in situations of threat responses? The present investigation paper aims to examine impoliteness strategies and mitigators by these learners when they respond to threatening situations in their context. Thus, it fills a gap in pragmatics literature by investigating the reactions to threats in an Iraqi-Kurdish EFL context. To this end, 50 participants have participated in this study. An open-ended questionnaire in the form of a Discourse Completion Task (DCT) is used to elicit responses fr
... Show MoreThe problem of constant and change values is one of the important problems that the philosophy thought had faced as the religious and social studies had taken it as it considers as one of the most dangerous which touch the basic . the research deals with the effect of change value of new Iraqi situation to be as an attempt , as participation or an excitement that can be occupied a space through the area of questions on the fix and change of moral values shed light on the economical ,social and political events that the Iraqi society passes through them .it is part of interests that becomes importance to everyone through the light of moral change Which is arbitrary to the life of the individual .It is not possible to rebuild the society o
... Show MoreThe main idea of the financial censorship is to submit the states funds to a censorship because they are the funds of the people and because this censorship is a right and role ensured by the constitution for specific devices in the state, thus the role of the financial censor should be launched to achieve this goal in all walks of the state. • The power of this censorship depends basically on the independence of the censorious bodies over a job which is submitted to this censorship and the censor should have a reverence , this censorship is practiced as a precautionary procedure before preparing the budget to avoid mistakes after and during the execution for maintaining the states funds. • The importance of the censorship comes from
... Show MoreNews feeds are at the forefront of news forms that are close to the public's attention for their rapid news content in two directions:
- its speed in summarizing events in one or two sentences easy to be understood and realized.
- highlight the most important contents of screenings or news broadcast.
The researchers felt that the importance of these brief news compared to news broadcast, breaking news and news subtitle are still ambiguous, as well as their contents.
The researchers selected the city of Baghdad as a community to research and prepare a questionnaire form containing (11) questions.
The questionnaires were distributed to a non-relative stratified
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