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.
Orphenadrine is an anticholinergic ,antimuscarinic , centrally acting skeletal muscle relaxant .It presents in the form of citrate and HCl salts which are used in treatment of the symptoms of mild Parkinson's disease and also it is used as adjuvant with other drugs in the therapy .
Many trials were made to formulate Orphenadrine citrate as a plain tablet using wet granulation or direct compression technique in order to get a satisfactory formula through studying the effect of various factors such as binders , diluents and disintegrants types .
The best formula was obtained by using Poly Vinyl Pyrolidine (PVP) as a binder also the results indicated that starch and mannitol
... Show MoreChronic myeloid leukemia (CML), is one of the myeloproliferative disorders with a characteristic cytogenetic abnormality resulting in the BCR-ABL fusion gene. Imatinib Mesylate is an effective agent for treating patients in all stages of CML. According to the annual Iraqi cancer registry 2019, the total number of chronic myeloproliferative disorders was 338. The percentage and incidence rates were 0.94% and 0.86%, respectively, with a higher incidence rate in males than females (1.12 in males and 0.60 in females). In this registry, no details about CML, so this study aimed to estimate the number of CML patients who attended the national center of hematology from 2005 until 2020 and investigate their epidemiological and clinic-pathol
... Show MoreBackground: Oxidative stress is a deleterious process that can be an important mediator of damage to cell structures and consequently various disease states. Exposure to free radicals from a variety of sources has led organisms to produce a series of defense mechanisms. The antioxidant ceruloplasmin is a copper-containing ferroxidase that can oxidize ferrous iron (Fe2+) to its nontoxic ferric (Fe3+) form. Ferrous iron (Fe2+) is extremely damaging because of its ability to generate toxic free radicals. Oral lichen planus (OLP) is a chronic inflammatory oral mucosal disease of unknown etiology. Previous studies reported that reactive oxygen species may be involved in the pathogenesis of lichen planus. The aim of this study was to estimate the
... Show MoreThis paper deals with numerical study of the flow of stable and fluid Allamstqr Aniotina in an area surrounded by a right-angled triangle has touched particularly valuable secondary flow cross section resulting from the pressure gradient In the first case was analyzed stable flow where he found that the equations of motion that describe the movement of the fluid
A total of 33 Iraq male positive for Toxoplasmosis and Iraq male negative for Toxoplasmosis (controls) were studies to Evaluation of some biochemical and immunological parameters changes.The parameters included lipid profile such as (Cholesterol(C), Triglycerides(TG), High-Density Lipoprotein (HDL), Low-Density Lipoprotein (LDL) and very Low-Density Lipoprotein (VLDL) and complement component C3 and C4. The results revealed significant decrease in the total cholesterol, Triglycerides, LDL and non-significant in vLDL (129.96±1.63, 130.69± 2.80, 87.19±1.97, 29.24± 0.83 mg/dl respectively) and non-significant increase in HDL(24.22 ±0.62) mg/dl compared with control group(152.07± 1.63, 156.48± 6.55, 99.26 ±1.39, 31.49± 1.30 and 21.31±
... Show MoreBackground: Cigarette smoking (CS) is a periodontal disease risk factor, affecting clinical parameters such as bleeding on probing (BOP), plaque index (PI), gingival index (GI) and proinflammatory cytokines level. This study examines the impact electronic cigarette use on proinflammatory cytokines and periodontal parameters. Methods: In this non-randomized study, ninety participants diagnosed with gingivitis were assigned into three groups. examined the effect of oral hygiene instructions on periodontal parameters and inflammatory biomarkers. Thirty CS (n=30) vaping electronic-cigarettes (e-cig) (n=29), and non-smoker (NS) (n=31) was included. Clinical parameters including PI, BOP, and GI were recorded at baseline and after 3 weeks
... Show MoreThe study was carried out to detection of H.pylori in (200) patients who attended two teaching hospitals in Baghdad. The diagnosis done by Immunochromatography methods. Stools and blood samples was taken from each patient as well as other (30) healthy control matching in their age. The study included detection the Levels of Interleukin-40 and CRP in sera of patients and control. The result indicated presence of H pylori antigen in 115 cases 59 cases of males and 51 of females, Also, the result indicated increasing levels of IL-40, cholesterol, Triglycerides, Low density lipoprotein, Very Low density lipoprotein increased significantly while the level of High density lipoprotein decreased in patients sera in comparison with healthy c
... Show Moreتحقق القراءةُ التَّناصيَّة قيمة موضوعيَّة للدرسِ النَّقديّ المعاصر؛ بمؤثراتها الثَّقافيَّة، والمعرفيَّة، لأنَّ الإبداعَ من سمات التُّراث الشِّعري في العصر الوسيط، وهو مسرحٌ لتداخلات نصِّيَّة مع مصادر متعددة دينيَّة، وأدبيَّة، وتاريخيَّة أداء ومضامين؛ يأتي اختيارُ (التَّناص مع الحديث النَّبوي في شعر صفيّ الدِّين الحلّي)؛ بوصفه امتدادًا شعريَّا أصيلًا لحضارة راقية معطاء
... Show MoreHBV and HCV are the major causes of chronic liver diseases throughout the world, and constitute a major global health risk. There is accumulated evidence that the imbalance of proinflammatory and anti-inflammatory cytokine production may play an important role in the pathogenesis of viral hepatic infections and may influence the clinical outcome and disease progression. This study was undertaken to analyze the circulating levels of Tumor Necrotic Factor (TNF-α) and Th2 cytokine IL-10 in patients infected with Hepatitis B and C virus. The study population consisted of 30 patients with chronic HBV, in addition to other 30 patients with chronic HCV infection were recruited on their first examination at the Al-Kindy General Hospital in Baghdad
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