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.
The solar eclipse occurs at short time before the crescent birth moment when the moon near any one of moon orbit nodes It is important to determine the synchronic month which is used to find Higree date. The 'rules' of eclipses are:
Y= ± 0.997 of Earth radius , the solar eclipse is central and 0.997 < |Y| < 1.026 the umbra cone touch the surface of the Earth, where Y is the least distance from the axis of the moon's shadow to the center of the Earth in units of the equatorial radius of the Earth.
A new model have been designed, depend on the horizontal coordinates of the sun, moon, the distances Earth-Moon (rm), Earth-sun (rs) and |Y| to determine the date and times of total solar eclipse and the geogra
... Show MoreBackground:: Infertility is a very common condition affecting approximately 13-14% of couples in the reproductive age. In general population; about 85% of couples have achieved conception within a year. Intrauterine insemination is one of the procedure which have a role in the treatment of infertile couple.Objectives:is to confirm that the use of ovulation induction in the course of intrauterine insemination elevates the pregnancy success rate.Method:This study had been conducted between December 2013 till December 2014 in AL-Elwiyah maternity hospital and AL-Samaraii hospital / Baghdad.On history and clinical examination; the chosen couple had the following criteria; primary infertility for more than one year, no previous IUI trials, hu
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The current study aims to identify agreeableness and orientation towards voluntary work of officials in public facilities, as well as to identify the nature of the correlation between agreeableness and orientation towards voluntary work of officials in public facilities. To achieve the aims of the research, the researchers designed the agreeableness scale, which consists of (28) items in its final form. The researchers also built a scale of orientation towards voluntary work, which consists of (29) items in its final form. Psychometric properties of validity and reliability of the two scales were extracted in various ways. The researcher applied the two scales on a sample of (400) officials, the results indicated that the
... Show MoreThere is no access to basic sanitation for half the world's population, leading to Socioeconomic issues, such as scarcity of drinking water and the spread of diseases. In this way, it is of vital importance to develop water management technologies relevant to the target population. In addition, in the separation form of water treatment, the compound often used as a coagulant in water treatment is aluminum sulfate, which provides good results for raw water turbidity and color removal. Studies show, however, that its deposition in the human body, even Alzheimer's disease, can cause serious harm to health and disease development. The study aims to improve the coagulation/flocculation stage related to the amount of flakes, i
... Show MoreThe expression of MUC5AC has been associated with the loss of the differentiation, TNM system, and nodal metastasis, in many cancers including gastric carcinoma (GC).Objective: To evaluate whether the MUC5AC could be used as a predictor in patients with GC and to assess the correlation between the expression of MUC5AC& the clinicpathological parameters as age, sex, histopathological subtypes, grade and stage of the tumor. This is a retrospective study conducted on 60 randomly selected patients (30 normal vs 30 GC), at the Pathology Department of the Gastroenterology and Hepatology Teaching Hospital&some private laboratories. They were collected and diagnosed during the period 2014-2018. Histological sections were stained with H&E and IHC st
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The purpose of the research is to determine how much do the external auditors’ qualifications in Iraq match the international requirements? And determine the necessary and priority requirements that the auditor should have in order to adapt with the changes in the community and the profession. The research partially focuses on comparing international institutes curriculum requirements with the local institutes’ curriculum requirements. Furthermore, it compares examinations of local students with the questions of these institutes and compares the requirements of these institutes to continuing vocational education with the local, as well as analyzes and presents the questionnaire results to find out the necessa
... Show MoreBackground: Multifactor affect the pathogenesis of thrombosis in solid malignancy; however, a significant role is attributed to the cancer cells ability to interact with and activate the host hemostatic system. [1]
Hemostasis is highly correlated to tumor growth, angiogenesis and metastasis, modulation of these pathways reflects interesting and promising treatment options in the future. [1]
Most patients with cancer frequently suffer from chronic compensated DIC and have abnormal laboratory coagulation tests without clinical manifestations of thrombosis, which is a subclinical hypercoagulable state that can be detected by varying degrees of activation of blood clotting. The results of laboratory tests in th
... Show MoreA survey and revised checklist of the species belonging to the family of Compositae for the specimens which are collected and deposited previously at the herbarium of the Iraq Natural History Research Center and Museum, in addition to the current specimens collected for the period 2016-2021. A total of 85 species belonging to 49 genera and 16 tribes are revised with their synonyms, locality, and distributions, flowering and fruiting period.