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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
Sun Dec 30 2012
Journal Name
Al-kindy College Medical Journal
A typical clinical presentation of molluscum contagiosum in Iraqi patients;clinical descriptive study
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Background Molluscum contagiosum is skin disease caused by the molluscum contagiosum virus (MCV) usually causing one or more small dome shaped umbilicated papules with symptoms that maybe self-resolve. MCV was once a disease primarily of children, but it has evolved to become a sexually transmitted disease in adults. It is believed to be a member of the pox virus family. In addition to the classic presentation of the disease; it can also come in different clinical forms that simulate large number of dermatolological disease.
Objective: To study different clinical forms of Molluscum contagiosum presentation in different age groups of Iraqi patients.
Method:This clinical descriptive study was performed in the outpatient department of

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Publication Date
Wed Jan 01 2020
Journal Name
Journal Of Biotechnology Research Center
Molecular screening of the entA gene of Enterococcus faecium isolated from Food and clinical sources
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Background: The microbial production of substances that have the potency to suppress the growth of other microorganisms is probably one of the prevalent defense strategy developed in nature, microorganisms produce a variable bunch of microbial defense systems, which include antibiotics, metabolic by-products, lytic agents, bacteriocins and others. Objective: The purpose of the present study was to isolate and identify Enterococcus faecium isolates then detecting its ability of carrying the gene responsible for enterocin production in this species. Materials and methods: Out of 50 samples from different sources (food and clinical sources) were collected for the Enterococcus faecium isolation, and the isolated bacteria Enterococ

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Publication Date
Tue Jan 09 2018
Journal Name
Research Journal Of Pharmacy And Technology
Sequencing of Mitochondrial COI gene in new Iraqi record Paropeas achatinaceum L. P. Feiffer, 1846, Gastropoda: Subulinidea
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Fifty snails of Paropeas achatinaceum specimens were collected and classified from four areas in Baghdad-Iraq from the period between June and July, 2017. The snails were divided into two groups (each group contain 25 snails). Two environment conditions were used in this study. Natural environment considered as control and experimental environment contains Citrus sinensis (L.) roots as snail’s source food. The comparison result between snail weights in the nature and experimental environment was not significant (0.497, 95% confidence interval [CI] 0.01209–0.02309). Also, the comparison between snail weights in the nature environment and the food mean weight was significant (0.014, 95% confidence interval [CI] 0.00591-0.04109), while the

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Publication Date
Wed Apr 01 2020
Journal Name
Indian Journal Of Forensic Medicine & Toxicology
Hormonal and mineral imbalance effect on bone resorption in predialysis iraqi patients with chronic kidney disease
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Publication Date
Fri May 23 2025
Journal Name
Reproductive Health Of Woman
Molecular detection of Rubella virus (1E genotype) in clinical sample of pregnant women, and it’s related to abortion
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Pregnant women who have rubella may potentially pass the infection on to their unborn offspring. A congenital rubella infection can result in a miscarriage, stillbirth, and congenital rubella syndrome. The only member of the Togaviridae family’s Rubivirus genus, the Rubella virus (RV) is a positive-polarity, single-stranded RNA virus genome surrounded by a lipoprotein envelope with spike-like, hemagglutinin-containing surface projections.The objective: to determine the Rubella virus (1E genotype) in pregnant woman and its relation to spontaneous miscarriage.Materials and methods. A total of 174 women which visited Al-Elweya Teaching Hospital, Baghdad, Iraq, were screened according to the following criteria: women with a history of

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Publication Date
Sat Oct 01 2022
Journal Name
The Egyptian Journal Of Hospital Medicine
Some Clinical Features of Trichomoniasis Associated with Pelvic Organs Tenderness in Sample of Iraqi women
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Publication Date
Sat Apr 01 2023
Journal Name
Journal Of Engineering
Modeling and Simulating NOMA Performance for Next Generations
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Non-orthogonal Multiple Access (NOMA) is a multiple-access technique allowing multiusers to share the same communication resources, increasing spectral efficiency and throughput. NOMA has been shown to provide significant performance gains over orthogonal multiple access (OMA) regarding spectral efficiency and throughput. In this paper, two scenarios of NOMA are analyzed and simulated, involving two users and multiple users (four users) to evaluate NOMA's performance. The simulated results indicate that the achievable sum rate for the two users’ scenarios is 16.7 (bps/Hz), while for the multi-users scenario is 20.69 (bps/Hz) at transmitted power of 25 dBm. The BER for two users’ scenarios is 0.004202 and 0.001564 for

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Publication Date
Thu Mar 10 2011
Journal Name
Tikrit Journal Of Agricultural Sciences
ESTIMATION OF GENE ACTION AND GENETIC PARAMETERS FOR SOME VEGETATIVE AND FLOWERY GROWTH CHARACTERS IN SUMMER SQUASH (Cucurbita pepo L.) BY USING MEAN GENERATION ANALYSIS
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An experiment was carried out in the vegetables field of Horticulture Department / College of Agriculture / Baghdad University , for the three seasons : spring and Autumn of 2005 , and spring of 2007 , to study the type of gene action in some traits of vegetative and flowery growth in summer squash crosses (4 x 3 = cross 1 , 3 x 7 = cross 2 , 3 x 4 = cross 3 , 3 x 5 = cross 4 , 5 x 1 = cross 5 , 5 x 2 = cross 6). The study followed generation mean analysis method which included to each cross (P1 , P2 , F1 , F2 , Bc1P1 , Bc1P2) , and those populations obtained by hybridization during the first and second seasons. Experimental comparison was performed in the second (Two crosses only) and third seasons , (four crosses) by using RCBD with three

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Publication Date
Sun May 10 2020
Journal Name
Baghdad Science Journal
Molecular Analysis of Rifampicin Resistance Conferring Mutations in Mycobacterium tuberculosis
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Mycobacterium tuberculosis resistance to rifampicin is mainly mediated through mutations in the rpoB gene. The effects of rpoB mutations are relieved by secondary mutations in rpoA or rpoC genes. This study aims to identify mutations in rpoB, rpoA, and rpoC genes of Mycobacterium tuberculosis isolates and clarify their contribution to rifampicin resistance. Seventy isolates were identified by acid-fast bacilli smear, Genexpert assay, and growth on Lowenstein Jensen medium. Drug susceptibility, testing was performed by the proportional method.  DNA extraction, PCR, and sequencing were accomplished for the entire rpoA, rpoB, and

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Publication Date
Thu Jul 06 2023
Journal Name
Iraqi Journal Of Biotechnology
Impact of Helicobacter pylori in some Blood Parameters Change of Iraqi Patients with Gastritis Disease
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In order to find the relationship between Helicobacter pylori infection and hematological disease are disorders which primarily affect the blood and blood-forming organs. One hundred and three blood samples were taken for people aged (20-68) years for the period from 10/1/2021 to 1/3/2022, divided into three groups. The first group included 44-person H. pylori-infected with symptoms of infection, the second group had 19-person H. pylori-infected but without symptoms, and the third group included 40 people without H. pylori infection. All studied groups were carried out to measure anti-IgG Ab, Vac A and Ferritin by Enzyme Linked Immunosorbent Assay (ELISA) technique. The statistical analysis indicates a non-significant difference in Vac A (p

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