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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
Tue May 11 2021
Journal Name
Research J. Pharm. And Tech
Association of Serum Renal Function Levels with Heart Failure Disease in Iraqi Patients
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Renal function tests are commonly used in clinical practice to look for renal disease, the most common includes the serum urea, uric acid and creatinine. Heart failure patients have a higher incidence of renal function test abnormalities than individuals who do not have heart failure disease. Fifty subjects of adults (male) were divided in to two groups, 25 subjects (healthy) as control (group1) and 25 subjects with heart failure (group 2). Our results indicate that serum uric acid, urea, and creatinine values were significantly elevated (P≤0.05) in patients group (2) compared with healthy group (1). The results also showed, the effect of age categories on uric acid blood urea nitrogen and creatinine values (P≤0.05) and there were no si

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Publication Date
Wed Apr 01 2026
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Sequencing of Catalytic Serine Protease, Linker, and Activation Peptide Domains-Coding Regions of the F9 Gene in Iraqi Hemophilia B Patients
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Background: Hemophilia B is an X-linked recessive disorder caused by mutations in the F9 gene, causing bleeding tendency predominantly in males. The mutational spectrum of the F9 gene has not been adequately studied in Iraq. Objectives: To detect the disease-causing variants of exons 6, 7, and 8 and immediate introns of F9 gene using Sanger sequencing among Iraqi hemophilia B patients and to correlate them with phenotypes. Methods: Forty Iraqi hemophilia B patients were recruited for this cross-sectional study from The Hereditary Bleeding Disorder Ward in the Children Welfare Teaching Hospital, Medical City, Baghdad, between November 2021 and April 2022 using a consecutive sampling technique. Peripheral blood samples were used for sequencin

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Publication Date
Mon Jan 01 2018
Journal Name
Biochemical Cellular Archive
Immunological and molecular detection of herpes simplex virus type 1 and 2 in patients clinically diagnosed with parkinson’s disease and multiple sclerosis
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To determine the relationship between herpes simplex virus 1, 2 and neurological disorders, sixty samples from patients with neurological diseases were collected (40 patients with Multiple sclerosis and 20 patients with Parkinson’s disease) all of whom attended both the Neurological science Hospital as well as the Neuropathology consultation Department in Baghdad Hospital In Iraq. The samples were collected in the time frame between November 2017 and April 2018. The ages of the patients that were investigated were between (17-76) years and compared to a control group consisting of 25 samples collected from apparently healthy individuals. All the studied groups were subjected to the measurement of anti-HSV 1, 2 IgG antibodies by the means

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Publication Date
Sun Nov 04 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Personal Hygiene for Adults with Diabetic Foot
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Objective: The aim of the study is to assess the personal hygiene of adult patients with
diabetic foot.
Methodology: A descriptive study was carried out in Baghdad teaching hospital, Al-Karama teaching hospital
and Al-Kindey teaching hospital for the period of 10/1/2006 to 1/9/2006. A purposive "non probability" sample
of (100) patient.
Questionnaire was constructed for achieving the purpose of the study. Data were collected through the
application of the questionnaire and interview technique. Data were analyzed through descriptive statistical
approach (frequency & percentage) and inferential statistical approach (chi-square & correlation) by using of
SPSS.
Results: The study results indicated that the

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Publication Date
Wed Oct 18 2023
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Personal Hygiene for Adults with Diabetic Foot
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Objective: The aim of the study is to assess the personal hygiene of adult patients with
diabetic foot.
Methodology: ٨ descriptive study was carried out in Baghdad teaching hospital, Al-Karama teaching hospital
and Al-Kindey teaching hospital for the period of 10/1/2006 to 1/9/2006. A purposive "non probability" sample
of (100) patient.
Questionnaire was constructed for achieving the purpose of the study. Data were collected through the
application of the questionnaire and interview technique. Data were analyzed through descriptive statistical
approach (frequency & percentage) and inferential statistical approach (chi-square ع correlation) by using of
SPSS.
Results: The study results indicated that the ra

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Publication Date
Fri Jun 16 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Isolation and Identification of Salmosamonella typhi from clinical samples with molecular detection of O-antigen encoded genes
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Abstract

Antibiotic treatment of  S.typhi is difficult as compared to treatment of acute infection. Antibiotic resistance carried against S.typhi  by using 6 kinds of antibiotics from  different classes, their results  showed that all isolates were  high resistance to Ampicillin (99%), Gentamicin (98%), Amikacin (79%) and   less  resistances  Trimethoprim (55%) ,  Imipenem (60%)  and Ceftriaxone(66%)  .

The present study focused on the molecular detection of Wzx flippase, Wzy polymerase genes in some Salmonella typhi isolates, Samples were collected from typhoid patients by classical lab work. Antibiotics susceptibilit

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Publication Date
Thu Jan 30 2014
Journal Name
Al-kindy College Medical Journal
Adenoid Hypertrophy in Adults and Nasal Obstruction
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Background .To know the incidence of adenoid hypertrophy in adults causing nasal obstruction and other nasal complains.
Methods.Prospective studyof(140 ) adult patientstheir main chief complaint were nasal obstruction , presented to Otolaryngology department at Aljumhory Teaching Hospital in Mosul , from the period (september 2010 to september 2011) ,their age ranged from (21 to 53) years . They were investigated clinically, radiologicaly ,and nasal endoscopic examination was carried out (rigid and fibro-optic ) . Adenoidectomy was performed for those with adenoid hypertrophy and sent for histopathological study .
Results:. we found adenoid enlargement in(24) patients (17.14%),in addition to nasalobstruction they were also complain

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Publication Date
Wed Dec 24 2025
Journal Name
Baghdad Science Journal
Association of CTGF and TGF –ß1 With Glomerulus Fibrosis in Iraqi Diabetic Patients With Chronic Kidney Disease
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Publication Date
Wed Jul 05 2017
Journal Name
International Journal Of Science And Research (ijsr)
Hyperglycosylated hCG in a Group of Iraqi Patients with Gestational Trophoblastic Disease
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Background : Hyperglycosylated hCG a newly discovered variant of hCG which can be used as a predictor of invasion of trophoblastic cells in patient with gestational trophoblastic disease. Objectives : To measure hyperglycosylated human chorionic gonadotrophin and to assess how far it can be used as predictor of invasion in invasive mole and choriocarcinoma. Study design control study. Setting: : Case Gynecological department in Baghdad Teaching Hospital from January 2016 to January 2017. Patient and Methods : 60 women were enrolled in this study 30 of them were with gestational trophoblastic disease (no.= 30 ) the remainder were normal pregnancy (no. =30) , hCG –H level was measured in both groups. Results : Mean serum hCG-H le

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Publication Date
Sat Feb 01 2020
Journal Name
Meta Gene
Waterpipe tobacco smoking and gene variants of CYP1A1-Ile462Val and -MspI polymorphisms are possibly associated with the risk of lung cancer in the Iraqi population
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Background: Previous studies about the correlation of genetic polymorphisms in the multigene family of cyto- chrome P450 (CYPs), the effect of tobacco smoking, and the risk of developing cancer have been well in- vestigated in different populations, but not in Iraq. Furthermore, the studies of malignance occurrence re- lationship with cigarette tobacco smoking revealed the presence of strong association, however, little is known about the risk of Waterpipe (WP) tobacco smoking. Thus, determination two important genetic polymorphisms in CYP1A1, a main member of CYPs, among Iraqi men was our first aim. This is the first study that highlights the correlation of CYP1A1 polymorphisms with the risk of lung cancer in Iraq. The second aim was to ev

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