Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.
Integration of laminar bubbling flow with heat transfer equations in a novel internal jacket airlift bioreactor using microbubbles technology was examined in the present study. The investigation was accomplished via Multiphysics modelling to calculate the gas holdup, velocity of liquid recirculation, mixing time and volume dead zone for hydrodynamic aspect. The temperature and internal energy were determined for heat transfer aspect.
The results showed that the concentration of microbubbles in the unsparged area is greater than the chance of large bubbles with no dead zones being observed in the proposed design. In addition the pressure, due to the recirculation velocity of liquid around the draft
... Show MoreBackground: Prostate cancer (PCa) is the most prevalent non-cutaneous malignancy and the second-leading cause of cancer-relatedmortality among males. Cancer is just one of the several disorders that may be linked to variations in trace element concentrations.Objective: To evaluate serum arrestin β-2 as a prostate cancer tumor marker and its association with trace elements.Methods: This case- control study was carried out at the Department of Biochemistry, College of Medicine, University of Baghdad and at the Urology department, Ghazi Al-Hariri Hospital for Surgical Specialities during the period from March 2022 to May 2023. In this case-control study 120 males were enrolled: Sixty men with newly diagnosed primary prostate cancer (P
... Show MoreThis comprehensive review examines the efficacy and safety of tumor necrosis factor-alpha (TNF-α) inhibitors in treating various autoimmune diseases, and focuses on their application in Iraqi patients. Elevated TNF-α levels are linked to autoimmune disorders, leading to the development of anti-TNF-α therapies such as infliximab, etanercept, adalimumab, certolizumab pegol, and golimumab, which have gained FDA approval for conditions like psoriasis, in¬flammatory bowel disease, ankylosing spondylitis, and rheumatoid arthritis. While these therapies demonstrate sig¬nificant therapeutic benefits, including improved quality of life and disease management, they also carry risks, such as increased susceptibility to infections and pote
... Show MoreAbstract
This study aims to identify the empathy of University Students, as well as the significant differences in sympathy in terms of gender and specialization. To achieve the aims of the study, a scale of empathy was administered to a sample of (450) students collected randomly from Baghdad university. The results showed that the study sample has a level of empathy. There is a significant difference between males and females in empathy, in favor of the female students. There is no significant difference in empathy in terms of specialization (scientific, humanities), and the interaction between males and females. The study came out with a number of recommendations and suggestions.
Background: Many countries recommend the use of long-acting reversible contraceptive intrauterine device immediately after cesarean delivery. The cesarean delivery rate in Iraqi public hospitals is 32.2% and may reach 85.8% in private hospitals. Immediate post-partum intrauterine device insertion at cesarean is rarely done in Iraq.
Objectives: To assess the safety and practicality of immediate post-partum intrauterine device insertion during cesarean delivery for family planning and pregnancy spacing in Iraqi women.
Subjects and Methods: A single arm clinical trial included 150 eligible women who attended Al-Elwiyah Maternity Teaching Hospital or Al Hayat Rahibat Hospita
... Show MoreAcquires this research importance of addressing the subject (environmental problems) with
age group task, a category that children pre-school, and also reflected the importance of
research, because the (environmental problems) constitute a major threat to the continuation
of human life, particularly the children, so the environment is Bmchkladtha within
kindergarten programs represent the basis of a hub of learning where the axis, where the
kindergarten took into account included in the programs in order to help the development of
environmental awareness among children and get them used to the sound practices and
behaviors since childhood .
The research also detected problem-solving skills creative with kids Riyad
Doses for most drugs are determined from population-level information, resulting in a standard ?one-size-fits-all’ dose range for all individuals. This review explores how doses can be personalised through the use of the individuals’ pharmacokinetic (PK)-pharmacodynamic (PD) profile, its particular application in children, and therapy areas where such approaches have made inroads.
The Bayesian forecasting approach, based on population PK/PD models that account for variability in exposure and response, is a potent method for personalising drug therapy. Its potential utility is eve
The deprivation Some of the children to exercise some fine motor activities a big problem , as a consequence, this problem plays of the delay in motor development during early childhood , Usually it happens to be the reasons for the lack of the right place to play , and the lack of the presence of the tools needed to play motor, or fear excessive protection by parents for their children as a result of lack of awareness of the importance of physical activity for the child to use his fingertips and fine his muscles . In addition to that small percentage of children spend most of their time in the daily activities and skills of non-motor , Such aswatching television, or play video games or they tend to play computer and mobile but they are
... Show MoreDiabetes mellitus type II is a disorder of metabolism and complex diseases affected by genetic environmental factors and associated with inflammation. The symptoms of type II diabetes develop gradually, which are associated with increased blood concentration of marker of the endothelial inflammatory factors. The expression of adhesion molecules, including E-selectin, intracellular adhesion molecule-1(ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1) on the surface of vascular endothelial cells to help leukocyte stick to other surrounding tissues. Many researchers have made attempts to determine the significance of particular ABO phenotype for the susceptibility to diseases. Many reports show a strong association with the ABO blood grou
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