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
Thu Feb 01 2018
Journal Name
Applied Mathematical Modelling
Identification of a multi-dimensional space-dependent heat source from boundary data
...Show More Authors

View Publication
Scopus (17)
Crossref (11)
Scopus Clarivate Crossref
Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
Photostability Study of Some Modified Poly(vinyl chloride) Containing Pendant Schiff’s Bases
...Show More Authors

The polymers modified Poly(vinyl chloride) differ in their tendency to photo oxidation comparing with that unmodified. It has been studied Photostability for modified Poly(vinyl chloride) chains using Schiff’s bases derivative of (5-amino-1, 3, 4-thiadiazole-2-thiol) in a manner casting of plastic chips with thickness (40) in a solvent Tetrahydrofuran. It has been determined the effectiveness Photostability of these modified polymers through the photo degradation rate constant for photostabilizer (kd) for the modified Poly (vinyl chloride). Attributed efficiency of these Poly(vinyl chloride) chips in Photostability by replace the atom Cl Poly(vinyl chloride) chains ends more stable than light stabilizer.

View Publication Preview PDF
Crossref (4)
Crossref
Publication Date
Wed Feb 03 2016
Journal Name
Iraqi Journal Of Physics
Study the variation of synodic month for the moon through 2000-2100
...Show More Authors

In this research study the synodic month for the moon and theirrelationship with the mean anomaly for the moon orbit and date A.Dand for long periods of time (100 years), we was design a computerprogram that calculates the period of synodic months, and thecoordinates of the moon at the moment of the new moon with highaccuracy. During the 100 year, there are 1236 period of synodicmonths.We found that the when New Moon occurs near perigee (meananomaly = 0°), the length of the synodic month at a minimum.Similarly, when New Moon occurs near apogee (mean anomaly =180°), the length of the synodic month reaches a maximum. Theshortest synodic month on 2053 /1/ 16 and lasted (29.27436) days.The longest synodic month began on 2008 /11/ 27 a

... Show More
View Publication
Crossref
Publication Date
Wed Nov 01 2023
Journal Name
Iop Conference Series: Earth And Environmental Science
Two New Records of Cerceris Latreille, 1802 (Hymenoptera: Apoidea: Crabronidae) from Iraq
...Show More Authors
Abstract<p>In a survey of the crabronid fauna of Iraq during June to October 2022; 9species belonging to the genus <italic>Cerceris</italic> Latreille, 1802 were identified. Twospecies are new record of the fauna of Iraq: <italic>C. dorsalis</italic> Eversmann, 1849 and <italic>C. priesneri</italic> Mochi, 1939. Brief description, diagnostic characters, some collecting information, and photographs of each species are provided. As well provides a key to the species depending on many morphological features especially: propodeal enclosure, semicircular plate at base of second gastral sternites and free margin of clypeus. Moreover, this study observed that most collecte</p> ... Show More
View Publication
Scopus (1)
Scopus Crossref
Publication Date
Tue Jan 01 2013
Journal Name
Iraqi Journal Of Physics
Describing the Wavefront Aberrations of the Hexagonal Aperture Using Modified Zernike Polynomials
...Show More Authors

n Segmented Optical Telescope (NGST) with hexagonal segment of spherical primary mirror can provide a 3 arc minutes field of view. Extremely Large Telescopes (ELT) in the 100m dimension would have such unprecedented scientific effectiveness that their construction would constitute a milestone comparable to that of the invention of the telescope itself and provide a truly revolutionary insight into the universe. The scientific case and the conceptual feasibility of giant filled aperture telescopes was our interested. Investigating the requirements of these imply for possible technical options in the case of a 100m telescope. For this telescope the considerable interest is the correction of the optical aberrations for the coming wavefront, th

... Show More
Publication Date
Fri Sep 06 2024
Journal Name
Journal Of Optics
Optimization photodetection performance: investigation of doping effect on PVA/Y2O3 composite material
...Show More Authors

In this work, the photodetection performance of polyvinyl alcohol (PVA) nanofibers and its composite with yttrium oxide (Y2O3) at different concentrations (2.5, 5, 10) wt% are examined deposited on p-type Si with (111) orientation. Electrospinning technique was used to create nanofiber composites. Adding Y2O3 significantly impacts the PVA nanofibers where ultraviolet-visible (UV-Vis) spectroscopy optical absorption energy gap decreases with increased concentration (2.8, 2.6, and 2.3) eV. X-ray diffraction was used to investigate crystal structure, which is cubic structure. The chemical composition study was conducted using Fourier transform infrared spectroscopy (FTIR) spectra, which revealed the stretching vibrations related to the Y-O bon

... Show More
View Publication
Scopus (3)
Crossref (3)
Scopus Clarivate Crossref
Publication Date
Mon Feb 28 2022
Journal Name
International Journal Of Interactive Mobile Technologies (ijim)
Flying Ad hoc Networks (FANET): Performance Evaluation of Topology Based Routing Protocols
...Show More Authors

Flying Ad hoc Networks (FANETs) has developed as an innovative technology for access places without permanent infrastructure. This emerging form of networking is construct of flying nodes known as unmanned aerial vehicles (UAVs) that fly at a fast rate of speed, causing frequent changes in the network topology and connection failures. As a result, there is no dedicated FANET routing protocol that enables effective communication between these devices. The purpose of this paper is to evaluate the performance of the category of topology-based routing protocols in the FANET. In a surveillance system involving video traffic, four routing protocols with varying routing mechanisms were examined. Additionally, simulation experiments conduct

... Show More
View Publication Preview PDF
Crossref (37)
Crossref
Publication Date
Fri Dec 30 2022
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
The Effect of Solvent Type on PAN–Based Nonwoven Nanofibers Membranes Characterizations
...Show More Authors

Electrospun nanofiber membranes are employed in a variety of applications due to its unique features. the nanofibers' characterizations are effected by the polymer solution. The used solvent for dissolving the polymer powder is critical in preparing the precursor solution. In this paper, the Polyacrylonitrile (PAN)-based nanofibers were prepared in a concentration of 10 wt.% using various solvents (NMP, DMF, and DMSO). The surface morphology, porosity, and the mechanical strength of the three prepared 10 wt.% PAN-based nanofibers membranes (PAN/NMP, PAN/DMF, and PAN/DMSO) were characterized using the Scanning Electron Microscopy (SEM), Dry-wet Weights method, and Dynamic Mechanical Analyzer (DMA). Using DMF as a solvent resulted in a lon

... Show More
View Publication Preview PDF
Crossref (4)
Crossref
Publication Date
Sat Aug 31 2019
Journal Name
Iraqi Journal Of Physics
Nuclear Structure Investigation of Some Ni-Isotopes Using Skyrme-Hartree-Fock Method
...Show More Authors

     The nuclear ground-state structure of some Nickel (58-66Ni) isotopes has been investigated within the framework of the mean field approach using the self-consist Hartree-Fock calculations (HF) including the effective interactions of Skyrme. The Skyrme parameterizations SKM, SKM*, SI, SIII, SKO, SKE, SLY4, SKxs15, SKxs20 and SKxs25 have been utilized with HF method to study the nuclear ground state charge, mass, neutron and proton densities with the corresponding root mean square radii, charge form factors, binding energies and neutron skin thickness. The deduced results led to specifying one set or more of Skyrme parameterizations that used to achieve the best agreement with the available experimental

... Show More
View Publication Preview PDF
Crossref
Publication Date
Sat Sep 02 2017
Journal Name
International Journal Of Science And Research (ijsr)
Experimental Investigation on Rheological Characterization of ecovio® F Film C2203biopolymer Melts
...Show More Authors