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Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
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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.

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Publication Date
Wed Jan 01 2014
Journal Name
Journal Of The College Of Languages (jcl)
Religious and Regional Honorifics in Iraqi Arabic
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Honorifics are linguistic expressions which maintain social as well as religious respect to other people. They are linguistic techniques which express politeness to other interlocutors. Semantically speaking, honorifics are of two types: al-Laqab (title) and al-Kuniya (teknonyms) following a specific word order. They form part of the Arab recognitions and are mold into their social and communicative competence.

      The study focuses upon religious and regional honorifics which convey deference and respect. It assumes that religious and cultural recognitions play vital roles in formulating and embedding the sense of honorifics. It is hypothesized that Arab people express respect to religious personalitie

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Publication Date
Wed Jun 19 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Elements of Promotion Mix and Their Effect in Insurance Service Marketing by Using Factor Analysis Approach: An Exploratory Research foe views of works Sample at the National Insurance Company
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The insurance is considered as one of the sectors that is impact is vital to the national economy and development programs, Insurance companies as financial institutions have an effect an aspects of social, economic as well as the participation of enterprises in compensation for the risk potential losses and individuals, Insurance sector provides insurance service insurance which should be characterized by quality and satisfy  needs and desires of the customer , so the  raise insurance awareness in the community its members and institutions will help in  maintaining the movement of production and service delivery standards, quality sought by the insured to obtain, as well as the development of promotional programs, and use

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Publication Date
Fri Oct 10 2025
Journal Name
Pharmakeftiki
Genetic polymorphisms and adverse effects that affect the natalizumab clinical response: a review
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The clinical response to natalizumab in patients with multiple sclerosis (MS) may be significantly influenced by genetic variation. Mutations in genes related to the drug’s mechanism of action or the pathological milieu of MS can contribute substantially to interindividual differences in treatment outcomes. This review aims to provide an overview of previous studies that have examined genetic polymorphisms associated with the clinical efficacy of natalizumab. A systematic literature search was conducted across the PubMed, Google Scholar, and ResearchGate databases using targeted keywords relevant to the subject matter. Several genetic loci were found to be linked to natalizumab responsiveness, including the integrin subunit alpha 4 (ITGA4

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Publication Date
Thu May 01 2025
Journal Name
Journal Of Biotechnology Research Center,
Probiotics effect on Gram-positive and negative bacteria that causes different clinical infection
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Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
Effect of some induce chemical and biological agents against (Tilletia tritici (Bjerk) and T.laevis (Kühn) causal agents of wheat Common bunt disease
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This study was conducted to evaluate the efficiency of some chemicals and biological agents to induce systemic resistance (ISR) against to wheat common bunt disease caused by the two species of fungus Tilletia tritici (Bjerk.) Wint (T. caries (Dac.) Tul.) and T. laevis Kuhn (T. foetida (Wall.) Liro. Trails in the efforts to find an alternative, safe and environmentally friendly means to control the disease. Results of this study which carried out during two consecutive seasons for the years 2012 - 2013 and 2013 - 2014 at two different environmental locations. Seed treatment by (SA 100 and 200 mg/L, 500 ?–aminobutyric acid (BABA) and 1000 mg/L, Effective Microorganisms (EM1) 40 and 150 ml/kg seeds) have led to high significant redu

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Publication Date
Tue Jan 01 2019
Journal Name
Reviews In Medical Microbiology
Virulence factors genotyping of Klebsiella pneumoniae clinical isolates from Baghdad
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Seventy of Klebsiella pneumoniae isolates had been collected from some Hospitals in Baghdad city from October to December 2017. The 70 isolates were taken from diverse clinical specimens. All K. pneumoniae isolates were identified based on API 20 E and Vitek2 compact system. Antibiotics sensitivity test was carried out toward 10 antibiotics using discs diffusion method. The level of antibiotics resistance was 81.42% for Ceftriaxone, whereas the low level of antibiotics resistance was 37.14% for Piperacillin. K. pneumoniae isolates were typed genotypically by using two different methods of amplification, multiplex-PCR and enterobacterial repetitive intergenic consensus (ERIC)-PCR typing methods. Results showed that out of 70 isolates, there

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Publication Date
Wed Mar 05 2025
Journal Name
Iraqi Journal Of Biotechnology
Effect of Genetic Polymorphism (rs2619363) on SNCA Gene among Iraqi Patients with Parkinson’s and some Gastrointestinal Disorders
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Parkinson’s disease (PD) consider as a progressive ageing neurodegenerative disease, Parkinson’s consider as a heterogenous disease, with mainly initiate through correlation between genetic and epigenetic by inducing of different factors on some related genes, these factors like (environmental, toxicants, nutrition, heavy metals, pesticides, some drugs) and also(trauma on head ,strokes) in addition to unknown reasons which cause an idiopathic PD .Current study aims to focusing on specific related PD gene called SNCA by single nucleotides polymorphism (rs2619363) as a risk factor for PD initiation disease in PD patients in addition to study the effect of polymorphisms on random Iraqi patients with different gastrointestinal

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Publication Date
Thu Dec 16 2021
Journal Name
Kufa Medical Journal
Clinical and Refractive Outcomes of Toric Phakic Implantable Collamer Lens Implantation for correction of myopic astigmatism
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Background: Currently there are four general approaches to correct refractive errors: refractive corneal surgery, crystalline lens surgery and implantation of an intraocular lens in anterior or posterior chamber. Aim: To evaluate the predictability, safety and stability of toric phakic implantable collamer lens implantation to correct moderate to high myopic astigmatism. Methods: Sixty eyes of 40 patients underwent implantation of a toric implantable collamer lens (V4c design) in the Eye Specialty Private Hospital, Baghdad, Iraq were studied. The mean spherical refraction was -11.32±3.17 diopter (D) with a range of -6.00 to -18.00 D and a mean cylinder of -2.61±1.16 with range of -1.00 to -5.50 D. The outcome measures that evaluat

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Publication Date
Thu Apr 18 2019
Journal Name
Al-kindy College Medical Journal
Clinical and Refractive Outcomes of Toric Phakic Implantable Collamer lens Implantat for correction of myopic astigmatism
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Background: Currently there are four general approaches to correct refractive errors: refractive corneal surgery, crystalline lens surgery and implantation of an intraocular lens in anterior or posterior chamber.

Objective: To evaluate the predictability, safety and stability of toric phakic implantable collamer lens implantation to correct moderate to high myopic astigmatism. in  Eye Specialty Private Hospital, Baghdad, Iraq.

Type of the Study: a prospective non randomize intervention study.

Methods: 60 eyes of 40 patients underwent implantation of a toric implantable collamer lens (V4c design).Mean spherical refraction was ₋11.32 diopter

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Publication Date
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluation of the Relation between Asthma, Obesity and Leptin Level in Iraqi Asthmatic Patients and the Main Risk Factors that are Associated with Leptin Level
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This study tries to clear the correlation and association between asthma, obesity and leptin levels. Also it will work to indicate the main risk factors which play role in the elevation of leptin level within asthmatic patients.  This is a case control study conducted on (38) asthmatic patients and (20) healthy control who were closely similar by age, gender and BMI. The main statistical tests used were student t test, linear regression test and correlation test. Significance was set at P < 0.05. Sampling method used for this study was convenience sampling method.  The main results of this study show a significant association and positive correlation between age (old age  â‰¥ 40 ye

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