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
Sun Jan 01 2023
Journal Name
Brazilian Dental Science
Wound healing effect of a one-week Aloe Vera mouthwash: a pilot study
...Show More Authors

View Publication
Scopus (5)
Crossref (3)
Scopus Crossref
Publication Date
Wed May 29 2019
Journal Name
Iraqi Journal Of Physics
Weathering effects on the thermal conductivity of PS/PMMA blends for packaging application
...Show More Authors

This work describes the weathering effects (UV-Irradiation, and Rain) on the thermal conductivity of PS, PMMA, PS/PMMA blend for packaging application. The samples were prepared by cast method at different ratios (10, 30, 50, 70, and 90 %wt). It was seen that the thermal conductivity of PMMA (0.145 W/m.K), and for PS(0.095 W/m.K), which increases by PS ratio increase up to 50% PS/PMMA blend then decreased that was attributed to increase in miscibility of the blend involved. By UV-weathering, it was seen that thermal conductivity for PMMA increased with UV-weathering up to (30hr) then decreased, that was attributed to rigidity and defect formation, respectively. For 30%PS/PMMA, there results showed unsystematic decrease in thermal conduct

... Show More
View Publication Preview PDF
Crossref
Publication Date
Thu Dec 15 2022
Journal Name
Bionatura
Study on the anti-microbial effect of Sinigrin against some pathogenic bacterial species
...Show More Authors

The increasing anti-bacterial drug resistance is one of the biggest challenges facing doctors around the globe, so finding alternative treatments is one of the ideal options to overcome this problem. The cruciferous family is one of the wealthiest plants worldwide because it contains the most important secondary metabolites, glucosinolates, known for their anti-microbial properties. The present study aimed to evaluate the anti-bacterial effect of glucosinolates (Sinigrin) against eight bacterial isolates (Staphylococcus aureus, Enterococcus faecalis, Escherichia coli, Klebsiella pneumoniae, Pseudomonas aeruginosa, Actinomyces, Proteus mirabilis and Streptococcus pneumoniae). The current study investigated six concentrations of pure

... Show More
View Publication
Scopus Crossref
Publication Date
Fri Jun 23 2023
Journal Name
Journal The College Of Basic Education / Al-mustansiriyah University
Numerical Solution of Non-linear Delay Differential Equations Using Semi Analytic Iterative Method
...Show More Authors

We present a reliable algorithm for solving, homogeneous or inhomogeneous, nonlinear ordinary delay differential equations with initial conditions. The form of the solution is calculated as a series with easily computable components. Four examples are considered for the numerical illustrations of this method. The results reveal that the semi analytic iterative method (SAIM) is very effective, simple and very close to the exact solution demonstrate reliability and efficiency of this method for such problems.

View Publication
Crossref (1)
Crossref
Publication Date
Wed Dec 25 2019
Journal Name
Journal Of Engineering
Effect of Tail Regulators on Euphrates River Flood Capacity at Al Nassiriyah City
...Show More Authors

Euphrates River extends about 125 km within the study area located in Annassiriyah City, Dhi Qar Governorate, Iraq. The impact of the seven hydraulic structures on the discharge capacity of the Euphrates River needs to be considered. The main objectives of this research are to increase the discharge capacity of Euphrates River within Annassiriyah City during flood seasons and study the impact of these hydraulic structures on the river capacity by using HEC-RAS 5.0.3 software. Five scenarios were simulated to study the different current condition of Euphrates River within Annassiriyah City. Other additional four scenarios were implemented through river training to increase the river capacity to 1300 m³/s; it is the flood

... Show More
View Publication Preview PDF
Crossref (5)
Crossref
Publication Date
Mon Jun 05 2023
Journal Name
Journal Of Engineering
Effect of Velocity on Dissolved Oxygen Cathodic Polarization using a Rotating Cylinder Electrode
...Show More Authors

The aim of the present work to study the effect of changing velocity (Reynold's number) on oxygen cathodic polarization using brass rotating cylinder electrode in 0.1, 0.3 and 0.5N NaCl solutions (PH = 7) at temperatures 40, 50 and 600 C. Cathodic polarization experiments were conducted as a function of electrode rotational speed and concentration.

View Publication Preview PDF
Crossref
Publication Date
Mon Jul 31 2023
Journal Name
Pakistan Heart Journal
The Effects of Planned Program on Nurses' Practices for Intramuscular Injection Among Pediatric
...Show More Authors

Publication Date
Tue Dec 29 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Effect of Ginkgo biloba Extracts on Candida albicans Isolated from Healthy Persons
...Show More Authors

The objective was to study the effect of prepared ginkgo biloba extracts against Candida albicans isolated from healthy persons. Conducting susceptibility test, biofilm formation test, phytochemical screening test, and antioxidant activity test. One hundred oral swabs sample were obtained from healthy persons with oral lesion attending dentistry teaching hospital in dentistry college, their age ranged from 1-30 years of both sexex. The studied samples collected through 8 months (April - December / 2018). This study included two different types of ginkgo bilola extracts were prepared as aqueous and ethanolic extracts. Many tests were used, which included isolation and identification of C.albicans, conduct susceptibility test, biofilm form

... Show More
View Publication Preview PDF
Scopus Crossref
Publication Date
Mon Apr 15 2019
Journal Name
Proceedings Of The International Conference On Information And Communication Technology
Optimal control of compliant planar robot for safe impact using steepest descent technique
...Show More Authors

View Publication
Scopus (5)
Crossref (4)
Scopus Clarivate Crossref
Publication Date
Tue Jun 01 2021
Journal Name
Jpras Open
The utility of a novel vacuum-assisted foreign body extraction technique from wounds
...Show More Authors

Retained soft tissue foreign bodies following injuries are frequently seen in the Emergency and Plastic Surgery practice. The patients with such presentations require a watchful and detailed clinical as- sessment to overcome the anticipant possibility of missing them. However, the diagnosis based on the clinical evaluation is usually challenging and needs to be supported by imaging modalities that are suboptimal and may fail in identifying some types of foreign bodies. Owing to that, serious complications such as chronic pain, infection, and delayed wound healing can be faced that necessitate a prompt intervention to halt those detrimental consequences. The classical method of removal is a surgical exploration which is not free of risks.

... Show More