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.
The study aimed to establish the association of miR-153-3p expression with treatment response to IM in CML patients. Sixty CML patients were included and divided into two groups consistent with their response to treatment whether sensitive or resistant to IM. Ten healthy normal participants were enrolled as control group. RNA was extracted from serum to work out miR-153-3p expression utilizing real-time quantitative reverse transcription polymerase chain reaction. The primers were supplied by Macrogen Inc. Twenty seven patients were sensitive to imatinib and 33 were resistant to imatinib. The ratio of male to female was 1.14:1. The bulk (58%) of patients were within the age range of 41-60 years. Weight and gender did not significantly diffe
... Show MoreAA Noaimi, BM Fadheel, Saudi medical journal, 2008 - Cited by 25
Objectives: 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
Cardiovascular 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 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 MoreSecondary trigeminal neuralgia (STN) results from an identifiable underlying pathology, including tumor compression, multiple sclerosis, arteriovenous malformations, hypertension, structural lesions, inflammation, trauma, or familial genetic conditions. This study, through a comprehensive review of the literature in PubMed, Google Scholar, Web of Science, and the Cochrane Library, explores the multifaceted aspects of STN. This study delves into the diverse etiological factors, focusing on the pathophysiological mechanisms that lead to trigeminal nerve dysfunction. The clinical manifestations of STN often overlap with those of primary trigeminal neuralgia, creating diagnostic challenges and necessitating a thorough evaluation that in
... 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 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
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