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.
In this work, satellite images classification for Al Chabaish marshes and the area surrounding district in (Dhi Qar) province for years 1990,2000 and 2015 using two software programming (MATLAB 7.11 and ERDAS imagine 2014) is presented. Proposed supervised classification method (Modified Vector Quantization) using MATLAB software and supervised classification method (Maximum likelihood Classifier) using ERDAS imagine have been used, in order to get most accurate results and compare these methods. The changes that taken place in year 2000 comparing with 1990 and in year 2015 comparing with 2000 are calculated. The results from classification indicated that water and vegetation are decreased, while barren land, alluvial soil and shallow water
... Show MoreCardiovascular risk is independently increased by plasma lipids abnormalities (low- density and high density lipoprotein -cholesterol and triglycerides). Most patients have more than one lipid abnormality. Combination therapy with lipid-modifying agents could offer an important therapeutic option for improving the overall lipid profile. Combinations have demonstrated to provide additive efficacy and significant reductions in coronary events . This study was designed to evaluate the effect of ezetimibe, when used in combination with other hypolipidaemic agents ( statins) on lipid profile as well as on liver function ,renal function, oxidative stress, and platele
... Show MoreThe purpose of the current investigation is to distinguish between working memory ( ) in five patients with vascular dementia ( ), fifteen post-stroke patients with mild cognitive impairment ( ), and fifteen healthy control individuals ( ) based on background electroencephalography (EEG) activity. The elimination of EEG artifacts using wavelet (WT) pre-processing denoising is demonstrated in this study. In the current study, spectral entropy ( ), permutation entropy ( ), and approximation entropy ( ) were all explored. To improve the classification using the k-nearest neighbors ( NN) classifier scheme, a comparative study of using fuzzy neighbourhood preserving analysis with -decomposition ( ) as a dimensionality reduction technique an
... Show MoreThe members of the family of Eentrobacteriaceae harbour a gene cluster called polyketide synthase (pks) island. This cluster is responsible for the synthesis of the genotoxin colibactin that might have an important role in the induction of double-strand DNA breaks, leading to promote human colorectal cancer (CRC). Eleven out of the eighty eight isolates (12.5%) were pks+, distributed as 7 (8%) isolates of E. coli, 2 (2.25%) of K. pneumoniae and 2 (2.25%) of E. aerogenes. The cytotoxic effects of selected pks+ isolates (E. coli and E. aerogenes) on HeLa cells were represented by decreasing cell numbers and enlarged cell nuclei in comparison to the untreated cells. Cyt
... Show MorePseudomonas aeruginosa has variety of virulence factors that contribute to its pathogenicity. Therefore, rapid detection with high accuracy and specificity is very important in the control of this pathogenic bacterium. To evaluate the accuracy and specificity of Polymerase Chain Reaction (PCR) assay, ETA and gyrB genes were targeted to detect pathogenic strains of P. aeruginosa. Seventy swab samples were taken from patients with infected wounds and burns in two hospitals in Erbil and Koya cities in Iraq. The isolates were traditionally identified using phenotypic methods, and DNA was extracted from the positive samples, to apply PCR using the species specific primers targeting ETA, the gene encoding for exotoxin A, and gyrB gene. The res
... Show MoreThe members of the family of Eentrobacteriaceae harbour a gene cluster called polyketide synthase (pks) island. This cluster is responsible for the synthesis of the genotoxin colibactin that might have an important role in the induction of double-strand DNA breaks, leading to promote human colorectal cancer (CRC). Eleven out of the eighty eight isolates (12.5%) were pks+, distributed as 7 (8%) isolates of E. coli, 2 (2.25%) of K. pneumoniae and 2 (2.25%) of E. aerogenes. The cytotoxic effects of selected pks+ isolates (E. coli and E. aerogenes) on HeLa cells were represented by decreasing cell numbers and enlarged cell nuclei in comparison to the untreated cells. Cytological changes were observed when the infected HeLa cells culture
... Show MoreThis research aims to identify the cognitive distortion of kindergarten children and its relationship to their parenting reinforcement. The researcher used the descriptive approach, being the closest to reaching the study objectives, To measure the relationship between the research variables, the researcher prepared two questionnaire tools for this purpose, the first for measuring "cognitive distortion", And the second is to measure "parental reinforcement", and each tool consisted of (20) items.
After ensuring the validity and reliability of the two research tools and their suitabi
... Show MoreObjectives: The study aims to: (1) assess psychological distress in parents of autistic children, (2) identify the
relationship between psychological distress and parents' socio-demographic characteristics such as (age, marital
status, relationship with child, educational level and monthly income) and (3) identify the relationship between
parent's distress and some of children' socio-demographic characteristics such as (gender, age, birth order and
mean number of children).
Methodology: A descriptive–analytical study that was carried out from December 12th, 2011 to May 1st, 2012.
on a purposive (non- probability) sample of 120 parents (father and mother) who have children with autism and
send their children to the