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: Melanin pigmentation of the gingiva appears in all ethnicities. Excessive pigmentation is an esthetic concern that has increased awareness about depigmentation procedures. This epidemiological study aims to find the correlation between skin color and gingival pigmentation in Sulaimani Governorate, Kurdistan/Iraq.
Subjects and Methods: A total of 820 apparently healthy and non-smokers, including 338 males and 482 females with healthy gingiva, aged between (18-40 years old) were enrolled in this study. Clinical examination on the participants’ gingivae was performed to assess color, and the distribution of pigmentations. Afterward the of participants skin color were
... Show MoreIn the present work, pattern recognition is carried out by the contrast and relative variance of clouds. The K-mean clustering process is then applied to classify the cloud type; also, texture analysis being adopted to extract the textural features and using them in cloud classification process. The test image used in the classification process is the Meteosat-7 image for the D3 region.The K-mean method is adopted as an unsupervised classification. This method depends on the initial chosen seeds of cluster. Since, the initial seeds are chosen randomly, the user supply a set of means, or cluster centers in the n-dimensional space.The K-mean cluster has been applied on two bands (IR2 band) and (water vapour band).The textural analysis is used
... Show MoreIt is found that hypersensitive teeth have a larger number and wider patent tubules than those of non-sensitive teeth. Objective: The aim of this study is to compare between the effects of diode laser at different power densities, with and without sodium fluoride on the sealing of exposed dentinal tubules and dentin permeability. Materials and methods: 118 teeth were used. Samples were divided into three major groups. The first consisted of 100 teeth used for permeability test. The second consisted of 16 teeth for measuring external surface temperature elevation while irradiation. The third, in turn, consisted of one pair of teeth observed under SEM for dentine surface morphology analysis. Results: For dentin permeability measurement, th
... Show MoreMarriage is a characteristic of the human race, as it is one of the oldest organization, asoldas human beign marrige is a legitimale relationsbip between male and female in the name of Allah "o mankind !Be dutiful to your lord, Who created you from a single person (Adam), and from him (Adam) He created his Wife (Eve), and from them both He created mang men and women
Marriage is a requirement of human life to ensure tle continuity and survival of the human species and established it in a legal, social and legitimate frame,according to certain criteria and conditions so that the individual earns psychological and social comfort in the name of Allah and Allah has made for you Azwaj ( mates or wives), sons and grand sons, and has bestowed
The current research includes several axes, which determine the basic professional skills among kindergarten teachers and government civil Balraudhat and their relationship to educate kindergarten children with life skills teacher Albaiah.boattabar his career. And this profession imposes upon that possesses special skills, qualify him to do his roles. The teacher experimenter, researcher and owner of philosophy and organizer and director of the positions and educational director of the interactions of classroom and non-classroom. And educational systems that are responsible for the preparation of the emerging needs constant review in order to improve internal Kvaiadtha select the best input consistent with the reality of education, so as
... Show MoreThe present work included study of the effects of weather conditions such as solar radiation and ambient temperature on solar panels (monocrystalline 30 Watts) via proposed mathematical model, MATLAB_Simulation was used by scripts file to create a special code to solve the mathematical model , The latter is single –diode model (Five parameter) ,Where the effect of ambient temperature and solar radiation on the output of the solar panel was studied, the Newton Raphson method was used to find the output current of the solar panel and plot P-V ,I-V curves, the performance of the PV was determined at Standard Test Condition (STC) (1000W/m2)and a comparison between theoretical and experimental results were done .The best efficiency
... Show MoreBackground: It is important to achieve good glycemic control to avoid long-term diabetic complications. It has been largely debated about the role of correct way of insulin administration to get the desired glycemic control.
Objective: To evaluate the effect of teaching diabetic patients who are on insulin therapy the correct way of injecting insulin and its effect on glycemic control.
Methods: A non randomized clinical trial with 820 diabetic patients on insulin therapy on whom A1 c estimation was performed before and after three months of teaching them the right injection technique.
Results : Sixty seven patients (8.17%) had A1 c 6.5% before they were enrolled in the study while the majority (753 patents, 91.82%) had A1 c 6.5%
Background: It is important to achieve good glycemic control to avoid long-term diabetic complications. It has been largely debated about the role of correct way of insulin administration to get the desired glycemic control.
Objective: To evaluate the effect of teaching diabetic patients who are on insulin therapy the correct way of injecting insulin and its effect on glycemic control.
Methods: A non randomized clinical trial with 820 diabetic patients on insulin therapy on whom A1 c estimation was performed before and after three months of teaching them the right injection technique.
Results : Sixty seven patients (8.17%) had A1 c 6.5% before they were enrolled in the study while the majority (753 patents, 91.82%) had A1 c 6.5%