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.
This paper discusses estimating the two scale parameters of Exponential-Rayleigh distribution for singly type one censored data which is one of the most important Rights censored data, using the maximum likelihood estimation method (MLEM) which is one of the most popular and widely used classic methods, based on an iterative procedure such as the Newton-Raphson to find estimated values for these two scale parameters by using real data for COVID-19 was taken from the Iraqi Ministry of Health and Environment, AL-Karkh General Hospital. The duration of the study was in the interval 4/5/2020 until 31/8/2020 equivalent to 120 days, where the number of patients who entered the (study) hospital with sample size is (n=785). The number o
... Show MoreIn this paper, we have extracted Silica from rice husk ash (RHA) by sodium hydroxide to produce sodium silicate. 3-(chloropropyl)triethoxysilane (CPTES) functionalized with sodium silicate via a sol-gel method in one pot synthesis to prepare RHACCl. Chloro group in compound RHACCl replacement in iodo group to prepere RHACI. The FT-IR clearly showed absorption band of C-I at 580 cm-1. Functionalized silica RHACI has high surface area (410 m2/g) and average pore diameter (3.8 nm) within mesoporous range. X-ray diffraction pattern showed that functionalized silica RHACI has amorphous phase .Thermogravemitric analysis (TGA) showed two decomposition stages and SEM morphology of RHACI showed that the particles have irregu
... Show MoreOne of the key molecules in the conversion of sphingosine to sphingosine-1- phosphate is SPHK-1, also known as Sphingosine Kinase 1 (SPHK-1). Sphingosine-1-phosphate (S1P) is a lipid that acts as a signaling molecule and plays an essential role in inflammatory and immunomodulatory responses. S1P has recently been identified as a mediator and a biomarker in inflammatory bone diseases such as osteoporosis and inflammatory osteolysis based on the biological effects of S1P in osteoclastic and osteoblastic cells and immune cells. According to recent research, S1P may play a role in the pathogenesis of periodontitis, an inflammatory bone-destructive condition. This study assesses the salivary level SPHK-1 in periodontitis and its correlat
... Show MoreThe deep learning algorithm has recently achieved a lot of success, especially in the field of computer vision. This research aims to describe the classification method applied to the dataset of multiple types of images (Synthetic Aperture Radar (SAR) images and non-SAR images). In such a classification, transfer learning was used followed by fine-tuning methods. Besides, pre-trained architectures were used on the known image database ImageNet. The model VGG16 was indeed used as a feature extractor and a new classifier was trained based on extracted features.The input data mainly focused on the dataset consist of five classes including the SAR images class (houses) and the non-SAR images classes (Cats, Dogs, Horses, and Humans). The Conv
... Show MoreThis study was carried out to describe the gene expression of the micro RNA 122a gene with the development of diabetes in Iraq. The difference in gene expression between patients and healthy controls was properly considered. In this study, blood was isolated from 121 individuals divided into two groups as follows: 80 samples of diabetic patients and 41 samples from a healthy control. miRNA was isolated and transformed into cDNA, and the expression of mi122a was measured by qRT-PCR. The researchers looked at the relationship between age and gender and the occurrence of diabetes, as well as how they compared to controls. When comparing the mean gene expression level (Ct) of patient groups to the corresponding Ct means in the control group, th
... Show MoreOBJECTIVE: To determine the preferred specialties of graduated medical doctors working in Basra, and determine the factors behind their preferences. METHODS: The study was conducted in 38 primary health care centres and seven hospitals in Basra from January-June 2014. A cross-sectional study was adopted with the use of a self-administered questionnaire form. Two hundred ninety six graduated doctors were agreed to participate. Chisquare test and logistic regression were used to test the association between deciding a future speciality and influencing factors. RESULTS: The most preferred specialties were radiology and ultrasound, gynaecology and obstetrics, surgery, internal medicine, dermatology and paediatrics. Clinical specialties were sta
... Show MoreChitinase-3-like 1 protein (YKL-40) is a glycoprotein primarily produced in the arthritic joint and plays a crucial role in inflammatory processes. The aim of the study is to establish the role of YKL-40 as a biomarker for rheumatoid arthritis (RA) compared to proinflammatory biomarkers and disease activity. The study included 58 patients and 18 control. Diseases activity score (DAS-28) and clinical disease activity index (CDAI) were measured. Serum level of YKL-40, tumor necrosis factor-α (TNF-α), interleukin-1B (IL-1β), erythrocyte sedimentation (ESR), rheumatoid factor (RF), C-reactive protein (CRP), and anti-citrullinated protein antibody (ACPA) were assessed. The results showed that the median serum YKL-40 level which was 5.42
... Show MoreA superb demonstration of one of the wonders of technology providing the people with great aid is the employment of Artificial Intelligence in the medical field, and mainly the introduction of Clinical Decision Support Systems (CDSS). Nevertheless, non-’black-box’ AI systems have a significant problem, that is, although they are visible and understandable, there is still a considerable issue of trust by healthcare professionals. Explainable AI (XAI) technology is a means to overcome all the obstacles by unveiling more and offering the explanations of the procedures that AI performs in decision making. This study was conducted by examining various widely used approaches to XAI, which illustrate how XAI verifies the trustworthiness of CDS
... Show MoreHigh-sensitive cardiac troponin I (hs-cTnI) is a recognized marker of myocardial injury in acute coronary syndromes, but its utility in chronic coronary syndromes (CCS) remains unclear. Midkine (MK), a heparin-binding growth factor, plays a role in inflammation and vascular remodeling in atherosclerosis. This cross-sectional study aimed to evaluate the predictive value of serum hs-cTnI and MK in determining the severity of coronary artery obstruction in patients with CCS. The study included 125 subjects undergoing coronary angiography (CAG) at the Iraqi Center of Heart Disease/ Medical City/Baghdad, from March to December 2024. Subjects were classified into three groups based on CAG findings: no CAD, 1- or 2-vessel disease, and 3-ve
... Show MoreLeft bundle branch block (LBBB) is a common finding in electrocardiography, there are many causes of LBBB.
The aim of this study is to discuss the true prevalence of coronary artery disease (CAD) in patients with LBBB and associated risk factors in the form of hypertension and diabetes mellitus.
Patients with LBBB were admitted to the Iraqi heart center for cardiac disea