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.
KE Sharquie, R Hayani, J Al-Rawi, A Noaimi, SH Radhy, CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2010
A Al-Nuaimy, B Fadheel…, IPMJ, 2009 - Cited by 1
AN Adil A, F Basman M, 2009
The most common nosocomial fungal infection in hospitals is urinary tract candidiasis. Candida albicans is the most prevalent cause of nosocomial fungal urinary tract infections, however Candida species distribution is changing rapidly. At the same time, the rise in urinary tract candidiasis has resulted in the emergence of antifungal-resistant Candida species. This study aimed to diagnose Candida Spp. In women with UTI and reveal the nucleotides sequences of CA-INT-L Gene to look for mutation within the gene. This study included 100 women patients suffering from urinary tract infections and vaginal swabs samples from those individuals were taken to identify the presence of Candida. They were between the ages of 22 and 67. Candida i
... Show MoreWriting plays an effective role in developing one's thinking and
enhancing Learning. It is, in fact, a means of widening one's own views about
the world for the numerous uses that it can serve (Samuel, 1988:28).
In regard to the unquestionable significance of writing in the teaching –
Learning process, the traditional approach seems to be far from being able to
put such significance into practice. Traditionalists give priority to formulating
students' ideas before using prescribed rhetorical framework and then
submitting the written product for grading. Emphasis is, therefore, limited to the
prewriting stage where a certain topic is explored, and the role of the teacher is
confined to assigning the topic and
Inflammatory bowel disease includes both Crohn’s disease and ulcerative colitis, is a chronic, progressive relapsing disease of gastrointestinal tract that require long-term treatment or maintenance therapy. Taking patient’s beliefs about the prescribed medication in consideration had been shown to be an important factor that affects compliance of the patient in whom having positive beliefs is a prerequisite for better compliance. The aim of the current study was to investigate and assess beliefs about medicines among a sample of Iraqi patients with inflammatory bowel disease and to determine possible association between these beliefs and some patient-specific factors.
This study is a cross-sectional study carried out o
... Show MoreThe present study evaluated the anti- Helicobacter pylori IgG, IgA and the role of virulence factor of H. pylori Vacuolating associated cytotoxin gene (Vac A) as a risk factors for CAD. The levels of serum IgG and IgA was done by indirect immunofluorescent (IIF) whereas Vac A measured by enzyme linked immunosorbent assay (ELISA). Ibn Al-Bitar specialist center for cardiac surgery laboratory and Ministry of Health/ Baghdad/ Iraq, between May and October 2018. Seventy Iraqi patients with CAD were enrolled in this study, their ages ranged between 40-84 years ; and 20 individuals as a control group which was divided into 2 subgroups: 10 apparently healthy volunteers (negative control) and the other subgroup contained 10 with normal coronary art
... Show MoreBackground Several studies have addressed the prevalence of Toxoplasma gondii (T. gondii), among Parkinson’s disease (PD) patients in different countries, and the potential association between the infection and PD; the results of these studies were conflicting. The study aims to investigate the prevalence of Toxoplasma infection among sample of Iraqi PD patients. Also, to examine the potential association of age, PD duration, gender, smoking habit, zone of residence and family history of PD, with the prevalence of Toxoplasma infection in PD patients.
Patients and Methods Seventy-four PD patients attaining Dr. Saad Al-Witry Neuroscience Hospital in Baghdad/ Ir
... Show MoreBackground: Coronary artery disease (CAD) is a major contributor to morbidity and mortality worldwide. Early-onset CAD, also known as PCAD, is a severe form of CAD associated with high mortality and a poor prognosis. Early diagnosis is crucial to reducing complications. While hsCRP is an established biomarker for CAD, kalirin is a potential novel biomarker due to its role in promoting smooth muscle proliferation and endothelial dysfunction. Objective: To evaluate the relationship between serum kalirin and hsCRP levels with the presence and severity of PCAD and to compare the diagnostic value of both biomarkers. Method: The study recruited 92 participants into two groups: the PCAD group (46) included patients with confirmed CAD by an
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