Preferred Language
Articles
/
g-ZKdZwBmraWrQ4dl0o4
Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
...Show More Authors

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.

Scopus
View Publication
Publication Date
Wed Aug 01 2018
Journal Name
Ecotoxicology And Environmental Safety
Biochemical and molecular alterations in freshwater mollusks as biomarkers for petroleum product, domestic heating oil
...Show More Authors

View Publication
Scopus (8)
Crossref (9)
Scopus Clarivate Crossref
Publication Date
Sun Jul 09 2023
Journal Name
Journal Of Engineering
Effect of Ferric Oxide on Electricity Generation and Waste Water Treatment Using Microbial Fuel Cell Technology
...Show More Authors

The aim of research is to show the effect of Ferric Oxide (Fe2O3) on the electricity production and wastewater treatment, since 2.5% of Ferric Oxide (Fe2O3) (heated and non heated) nanoparticles has been used. Characterization of nanoparticles was done using X-ray Diffraction (XRD) and Scan Electron Microscopy (SEM). The influence of acidity was also studied on both wastewater treatmenton the Chemical Oxygen demand (COD) and Biological Oxygen Demand (BOD) and voltage output was studied. From the results, it was infused that the dosage of 0.025 g/l and an initial pH 7 were founded to be optimum for the effective degradation of effluents. The results concluded that the treatment of anaerobic sludge wastewater using Ferric Oxide (Fe2O3) in

... Show More
View Publication Preview PDF
Crossref (1)
Crossref
Publication Date
Sat Dec 01 2012
Journal Name
Journal Of Economics And Administrative Sciences
Comparison between the empirical bayes method with moments method to estimate the affiliation parameter in the clinical trials using simulation
...Show More Authors

In this research the Empirical Bayes method is used to Estimate the affiliation parameter in the clinical trials and then we compare this with the Moment Estimates for this parameter using Monte Carlo stimulation , we assumed that the distribution of the observation is binomial distribution while the distribution with the unknown random parameters is beta distribution ,finally we conclude that the Empirical bayes method for the random affiliation parameter is efficient using Mean Squares Error (MSE) and for different Sample size .

View Publication Preview PDF
Crossref
Publication Date
Thu Mar 18 2021
Journal Name
Review Of International Geographical Education Online
Chomsky's Political Views as a Case Study in a Critical Discourse Analysis of Ideology in the Iraqi Wars
...Show More Authors

APDBN Rashid, Review of International Geographical Education Online (RIGEO), 2021

View Publication
Publication Date
Wed Feb 22 2023
Journal Name
Iraqi Journal Of Science
Detection of blaKPC Gene in Some Clinical Klebsiella pneumoniae Isolates in Baghdad
...Show More Authors

For the period from February 2014 till May 2014, one hundred and nine lactose fermenter clinical isolates from different samples (urine, stool, wound swab, blood, and sputum) were collected from Alyarmok, Alkadimiya, and Baghdad teaching hospitals at Baghdad governorate. Identification of all Klebsiella pneumoniae isolates were carried out depending on macroscopic, microscopic characterizations, conventional biochemical tests, and Api 20E system. Fifty-three (48.62%) isolates represented K. pneumoniae; however, 51.73% represented other bacteria. Susceptibility test was achieved to all fifty-three K. pneumoniae isolates using five antibiotic disks (Ceftazidime, Ceftriaxone, Cefotaxime, Imipenem, and Meropenem). Most of tested isolates (90

... Show More
View Publication Preview PDF
Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Forensic Medicine & Toxicology
Immunohistochemical Assessment of SOX2 Expression in Iraqi Patients with Gastric Carcinoma (GC)
...Show More Authors

Scopus (3)
Crossref (1)
Scopus Crossref
Publication Date
Mon Jun 03 2024
Journal Name
Journal Of Kufa For Chemical Sciences
Biochemical Role of Blood Electrolytes in Old Iraqi Patients with COVID-19
...Show More Authors

Background: Age progression is regarded as a critical risk factor in morbidity and mortality because of a weakened immune system. Although various studies have dealt with electrolyte imbalance in COVID-19 patients, the outcomes of these studies were partially understood. Objective: The current study aims to determine some biochemical parameters in old Iraqi COVID-19 patients and highlight the outcomes according to the aging role in the development of COVID-19 by suggesting new mechanisms. Materials and methods: forty COVID-19 patients were enrolled in the current study and divided into two groups: Gm includes (20) men, and Gf includes  (20) women. The parameters (Na+, K+, Cl-, LDH, and Hb ) were determined in sera of patients and c

... Show More
View Publication
Crossref
Publication Date
Mon Jan 01 2018
Journal Name
Journal Of Clinical And Diagnostic Research
Immunohistochemical Expression of HER2/neu Receptors in Iraqi Patients with Endometrioid Carcinoma
...Show More Authors

Introduction: With the advent of era of targeted cancer therapy, the serious side effects of chemoradiotherapy have been minimised. Considering the success story of anti-HER2/neu drugs in breast cancer oncology, the present study was conducted. The study evaluates the immunohistochemical expression of HER2/neu in endometrioid cancer among Iraqi patients. Aim: To assess the immunohistochemical expression of HER2/neu in endometrioid carcinoma of uterus and to find the relationship of this expression with FIGO stage and grade and with patient age. Materials and Methods: In this cross sectional study, formalin-fixed, paraffin-embedded tissue blocks of 62 hysterectomy specimens that were diagnosed as endometrioid carcinoma in the teaching labora

... Show More
View Publication Preview PDF
Scopus (2)
Crossref (1)
Scopus Crossref
Publication Date
Sun Feb 02 2025
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Morphometric Evaluation of Lips in Iraqi Subjects with its Possible Esthetic Benefits
...Show More Authors

Objectives: to assess the normal range of different lip parameters with gender difference and its role in esthetic procedures for Iraqi people. Methods: direct lip measurements were performed with closed lip position using a digital vernier caliper in 132 young Iraqi subjects (89 female and 43 male). Results: Lip measurements showed sexual dimorphism with higher value in men than women in six parameters. Cutaneous height of the upper lip was higher in both sexes. The mustache area in males was longer in males compared to females.  Also, it was noticed that upper lip vertical thickness had a higher value, especially in subjects with cosmetic procedures. In addition to that, vertical upper lip thickness showed a higher rise in values

... Show More
View Publication
Scopus Crossref
Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Estimation levels of CTHRC1and some cytokines in Iraqi patients with Rheumatoid Arthritis
...Show More Authors

Collagen triple helix repeat containing-1 (CTHRC1) is an essential marker for Rheumatoid Arthritis (RA), but its relationship with pro-inflammatory, anti-inflammatory, and inflammatory markers has been scantily covered in extant literature. To evaluate the level of CTHRC1 protein in the sera of 100 RA patients and 25 control and compare levels of tumour necrosis factor alpha (TNF-α), interleukin 10 (IL-10), RA disease activity (DAS28), and inflammatory factors. Higher significant serum levels of CTHRC1 (29.367 ng/ml), TNF-α (63.488 pg/ml), and IL-10 (67.1 pg/ml) were found in patient sera as compared to that in control sera (CTHRC1 = 15.732 ng/ml, TNF-α = 33.788 pg/ml, and IL-10 = 25.122 pg/ml). There was no significant correlation be

... Show More
View Publication Preview PDF
Scopus (8)
Crossref (3)
Scopus Crossref