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.
Background: Diabetes mellitus (DM) could be regarded as a set of chronic metabolic disorders which have a common aspect of hyperglycemia. The resistance in the peripheral actions of insulin or impaired insulin secretion could be the reason hepcidin which is a peptide hormone derived from liver, in systemic iron homeostasis is an essential regulator, and its lopsided production participates in the pathogenesis of iron disorders in spectrum. Osteoporosis often accompanies many diseases like ß-thalassemia, hemochromatosis, sickle liver diseases, cell disease and hemosiderosis featured by iron overload, evidences suggest that Iron overload and iron deficiency are suggested by evidences that they affect bone in a negative way, acting
... Show MoreCarbon tetrachloride (CCl4) has been demonstrated to induce testicular damage via oxidative stress. Bromelain (Br), a proteolytic enzyme known for its biological activities and pharmacological properties, exhibits limited absorption owing to its low solubility and bioavailability. The present study aimed to investigate the histological and immunohistochemical effects of bromelain conjugated with gold nanoparticles (AuNPs) on the testis histology of albino mice treated with CCl4. Thirty-five male albino mice (Mus musculus), with an average age of 9 weeks, were randomly divided into five groups, each containing seven mice. The experiment was prolonged for four weeks. The first group (G1) was the control group, the second group (G2) re
... Show MoreAbstract The results showed that after treating <italic>C. albicans</italic> with Artemisinin (0.104 mg/ml) for 3 hours the number of <italic>C. albicans</italic> decreased and affected the morphology hyphae and growth of <italic>Candida</italic> compared with Fluconazole (150 mg/ml) and control (infected mice). The biomarker levels in the tongue showed high levels of MDA and TGFβ (623±1.5pg/ml, 586.1±0.13pg/ml respectively) in (infected mice with fungi). IL-37 was recorded high level (49.21±0.21pg/ml) in (Neoral +Fungi + artemisinin + fluconazole) compared with negative control. The finding biomarker levels in stomach showed high levels of MDA and IL-37 (533.8±1.9, 69.76±0.39pg/ml) in (Neor
... Show MoreThe following study was conducted to investigate the correlation between the expression of three different genes (NOB1, DDX47, CD101( with the occurrence and development of chronic myeloid leukemia (CML) in Iraq. The difference in the expression of these genes between patients and healthy controls was studied. Moreover the correlation of age and gender with CML occurrence and comparing with control was also examined. Results showed significant increases in mean of gene expression level (ΔCt) of patient groups for all genes compared to the corresponding ΔCt means in control group, also the gene expression folding (2-ΔΔCt) reflect significant differences in the expression of these genes and CD101, mRNA showed the highest level in CML pati
... Show MoreBackground: The SARS-CoV-2 virus causes COVID-19, a respiratory syndrome. It causes inflammation and damages several organs in the body. miRNAs play a role in regulating the infection resulting from SARS-CoV-2. MicroRNA-155, a kind of microRNA linked to viral defences, can affect the immune responses during COVID-19. Objectives: Examination of the involvement of microRNA-155 in the development and severity of COVID-19, as well as finding the correlation between microRNA-155 and viral load (copies/mL) in severe cases of the disease. Materials and Method: A case-control research study was performed between October 2022 and June 2023. It included a cohort of 120 hospitalised individuals with severe cases of COVID-19, together with 115 individu
... Show MoreOsteoarthritis (OA) is a series of aggressive destructive inflammatory processes. Synovitis is common both at an early and a late phase. This disease may be uniquely singular in some site but phylogenetically related at some point in time to produce a common outcome of dysfunction, disability, socioeconomic destruction and sometimes socioeconomic failure. Articular cartilage, subchondral bone and synovial membrane are the site of major abnormalities in this disease process. Rheumatoid factor (RF) represents one of the routine laboratory tests that made for all patients have joint complaints.Chloroquine phosphate (CQP) is agent belong to disease modifying osteoathritic drugs (DMOADs). Chloroquine and their derivatives have been used for t
... Show MoreAfrican countries are among the countries in the world that suffer from the phenomenon of child recruitment in wars and conflicts. There are many reasons behind it, including the nature of the human formation of children, the societal violence to which they are exposed, lack of access to education, economic hardships, as well as the role of African wars and conflicts and other reasons that compelled children to join armed groups and participate in military operations. The recruitment of children is divided into two types, compulsory and voluntary, and this leads to many humanitarian and security repercussions that are not limited to a specific period of time but extend to subsequent generations, and due to its seriousness, t
... Show MoreForeign body embolization is a rare but serious iatrogenic complication that might necessitate transcatheter or even surgical retrieval. A broken double-lumen catheter was snared using a goose neck snare kit. The procedure was successful, and the patient experienced no further complications.
Coeliac disease is an immunologically mediated disease of the small intestinal mucosa, characterized by flattening of the small intestinal villi, increased numbers of intra-epithelial lymphocytes and inflammatory cell infiltrates in the lamina propria, resulting in gut damage and nonspecific malabsorption of nutrients. The disease is elicited by ingestion of gluten, a protein found in several cereals, principally wheat, but also barley and to a lesser extent, oats. Successful treatment is avoidance of dietary gluten. Long-standing evidence suggests a T-cell-mediated response to peptides derived from the gliadin fraction of wheat gluten, leading to immunologically mediated intestinal injury in genetically susceptible individuals. The
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