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.
Machine learning (ML) is a key component within the broader field of artificial intelligence (AI) that employs statistical methods to empower computers with the ability to learn and make decisions autonomously, without the need for explicit programming. It is founded on the concept that computers can acquire knowledge from data, identify patterns, and draw conclusions with minimal human intervention. The main categories of ML include supervised learning, unsupervised learning, semisupervised learning, and reinforcement learning. Supervised learning involves training models using labelled datasets and comprises two primary forms: classification and regression. Regression is used for continuous output, while classification is employed
... Show MoreMammary tumors (CMT) in dogs in Iraq may be induced by carcinogenic war ordnance. In our study, 10 virgin un- spayed military/pet bitches aged 5-15 years presented with abnormal masses in the abdomen with painful oedema, swelling, anorexia, weight loss, weakness and mild fever. Examination of regional lymph nodes and thoracic radiography confirmed metastasis. Tumors were excised and determined to be mostly adenocarcinomas involving multiple glands, solid in texture, 5-15 cm in size, mostly in the inguinal mammary glands at stage T3: >5 cm. Microscopy confirmed presence of adenocarcinoma in 8 dogs and solid carcinoma in 2 with half of tumors being grade III. Tumors had pleomorphic hyperchromatic cell nuclei in stroma, epithelial cells of duc
... Show MoreBleeding disorders in pediatrics is an important issue and can be lifethreatening if not diagnosed and treated appropriately. We aimed to evaluate Iraqi pediatric practice (as an example of resource-limited settings) about the use of Recombinant Activated Factor VII (RFVIIa) in bleeding disorders, with emphasis on its effectiveness and safety, in comparison with adjuvant therapy. Budget restrictions may affect the availability of even lifesaving drugs such as (RFVIIa). Therefore, we tried to investigate the local experience of pediatric bleeding, with the evaluation of the potential ability of adjuvant therapy of blood products and vitamin K to substitute RFVIIa in case of non-availability. During a complete one year‘s period, 35 patients
... Show MoreThe qualified subjects for this study included 33 patients with benign and malignant oral tumors aged 15-75 years and 31 matched age and gender healthy subjects used as control. Proteins measurements included total protein, albumin, globulines in sera and saliva samples, and immunoglobulins (IgG, IgM, IgA) in sera samples of control and patients. Meanwhile, polyacrylamide gel electrophoresis (PAGE) was used to differentiate between protein patterns in both serum and saliva samples among the studied groups. The gel was also stained for glycoprotein to evaluate as well the changes in glycoprotein contents. For total protein, the results revealed a signifigant increase (P?0.01) in both samples (serum and saliva) of patient group. Albumin conce
... Show MoreJM Karhoot, AA Noaimi, WF Ahmad, The Iraqi Postgraduate Medical Journal, 2012 - Cited by 7
Objectives: To determined the levels of lipid profile (TC, TG, HDL-c, LDL-C, VLDL) in diabetic and diabetic neuropathy patients and compare the results with control group. Also, to compare Atherogenic Index of Plasma (AIP) levels in these groups that may be predict prone of patients to cardiovascular disease. Methodology: Ninety subjects were enrolled in this study with aged ranged (40-65) years and BMI with (30-35) Kg/m2 that divided into three groups as follows: group one (G1) consists of 30 healthy individuals as a control group, group two (G2) consists of 30 patients with diabetes and group three (G3) consists of 30 patients with diabetes and neuropathy as complication. Electrochemical Skin Conductance (Feet Mean), Electrochemic
... Show MoreObjective: Knee osteoarthritis is a common disabling chronic disease globally. Many pharmacological agents have been used efficiently in treatment of knee osteoarthritis. This study aims to evaluate metformin and serratiopeptidase together in treatment and stop of osteoarthritis progression by different mechanisms. Methods: Present study was a randomized clinical trial study conducted in Al-Kindi teaching hospital through the period from 1st January to 30th of May, 2017 on two groups of 80 osteoarthritis patients (group I; treated with metformin 850 mg oral tablets) and (group II; treated with metformin 850 mg oral tablets and serratiopeptidase 20 mg oral tablets). Parameters of two groups were compared with those of 40 normal healt
... Show MoreObjective(s): To determine the impact of psychological distress in women upon coping with breast cancer.
Methodology: A descriptive design is carried throughout the present study. Convenient sample of (60) woman with breast cancer is recruited from the community. Two instruments, psychological distress scale and coping scale are developed for the study. Internal consistency reliability and content validity are obtained for the study instruments. Data are collect through the application of the study instruments. Data are analyzed through the use of descriptive statistical data analysis approach and inferential statistical data analysis approach.
Results: The study findings depict that women with breast cancer have experien
... Show MoreThis research presents a numerical study to simulate the heat transfer by forced convection as a result of fluid flow inside channel’s with one-sided semicircular sections and fully filled with porous media. The study assumes that the fluid were Laminar , Steady , Incompressible and inlet Temperature was less than Isotherm temperature of a Semicircular sections .Finite difference techniques were used to present the governing equations (Momentum, Energy and Continuity). Elliptical Grid is Generated using Poisson’s equations . The Algebraic equations were solved numerically by using (LSOR (.This research studied the effect of changing the channel shapes on fluid flow and heat transfer in two cases ,the first: cha
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