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.
Implementing smart community engagement should consider careful planning and collaboration with numerous stakeholders, including the community. The technology and program must be designed to frame its purpose and should link back to specific goals of implementing smart community engagement. Digital services do not guarantee a smart engagement between the community and the local government. This is the case for the Kubang Pasu local government where several online services have been provided in their attempt to implement the smart community concept. However, understanding on the preferences of features and requirements of existing web-based systems and the impact of these systems is lacking. Therefore, a perception study needs to be condu
... Show MoreAntimicrobial and antiyeast activity of ethanolic and aqueous extract of grape fruit seed (Citrus paradise ; Rutaceaa) was examined against 10 bacterial and 2 yeast strains. The level of the antimicrobial effects was established using an in vitro agar assay and minimum inhibitory concentration (MIC). In general ethanolic extract were more effective on gram positive bacteria than gram negative bacteria and strongest antimicrobial effect against Streptococcus pyogenes and Salmonella entritidis. Other tested bacteria and yeasts were sensitive to extract ranging from 4 to 16 mg/ml and more.
The atomic properties have been studied for He-like ions (He atom, Li+, Be2+ and B3+ions). These properties included, the atomic form factor f(S), electron density at the nucleus , nuclear magnetic shielding constant and diamagnetic susceptibility ,which are very important in the study of physical properties of the atoms and ions. For these purpose two types of the wave functions applied are used, the Hartree-Fock (HF) waves function (uncorrelated) and the Configuration interaction (CI) wave function (correlated). All the results and the behaviors obtained in this work have been discussed, interpreted and compared with those previously obtained.
Studies in Iraq that concerned identification of free-living Protozoa (sarcodina) are scarce; so the current study deals with these protozoan communities inhabiting the Tigris River in Baghdad City. Sampling collection stations have been selected at each of AL-Gheraiˈat and AL-Adhamiyah area adjacent to the river. Monthly intervals sampling with three samples were collected from each station from June to September 2020. Total of 23 sarcodina taxa were listed, out of them 5 taxa were new record to the Tigris River in Baghdad: Difflugia urceolata Carter, 1864 (Arcellinida, Difflugiidae), Heleopera perapetricola Leidy, 1879 (Arcellinida, Heleoperidae), Rhaphidiophrys pallida F.E. Schulze, 1874 (Centrohelida, Raphidiophridae), Saccamoeba sp
... Show MoreGypseous soil is considered as a problematic soil for embankment construction, however, implementation of emulsified asphalt as a stabilization agent could be a proper solution for enhancing its properties as a subgrade soil. In this work, the sustainability of asphalt stabilized soil has been assessed in terms of its resistance to cyclic (freezing-thawing) and (heating-cooling) processes. Specimens have been prepared at optimum fluid content (moisture and emulsion) and tested under direct shear stresses while subjected to 30 cycles of (freezing-thawing) and (heating-cooling). Both of dry and soaked testing conditions have been implemented. Data have been observed after each 10 cycles, and compared with that of reference mix. It was conclud
... Show MoreAbstract Background: Dne of the key component of nasal tipplasty is effecter control of naral tip projection. Several cartilage grafts have been decreased for this purpose each had its own advantage and disadvantage. Aim: To evaluate using of double teostrut graft for controlling of tip projection. Patients and Methods: A total number of 170 patients were subjected to primary and secondary rhino plaster between January 2020 to January 2023. Those patients had double Teostrut banner graft for support of their nasal tip and maintaining tip projection after operation. Results: The follow period was ranging between 6-12 months. The shape of the nose was evaluating by patents vernal analogues scale. The average score for patients satisfaction wa
... Show MoreObjective(s): The study aims to assess the early detection of early detection of first degree relatives to type-II
diabetes mellitus throughout the diagnostic tests of Glycated Hemoglobin A1C. (HgbA1C), Oral Glucose Tolerance
Test (OGTT) and to find out the relationship between demographic data and early detection of first degree
relatives to type-II diabetes mellitus.
Methodology: A purposive "non-probability" sample of (200) subjects first degree relatives to type-II diabetes
mellitus was selected from National Center for Diabetes Mellitus/Al-Mustansria University and Specialist Center
for Diabetes Mellitus and Endocrine Diseases/Al-kindy. These related persons have presented the age of (40-70)
years old. A questio
This study includes a detailed morphological description of Cosmina baghdadensis sp. nov.
from Iraq.
Many characters are used in identification especially chaetotaxy and male genetalia.
Locality, host plant, and data of collection were given.