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.
Coronary artery disease (CAD) is the leading cause of death worldwide. Certain genetic polymorphisms play an important role in this multifactorial disease, being linked with increased risk of early onset CAD.
To assess six genetic polymorphisms and clinical risk factors in relation to early onset nondiabetic Iraqi Arab CAD patients compared to controls.
This case–contro
The experiment was conducted to study the effect of sodium chloride (NaCl) at the concentrations of 0.0, 0.5, 1.0 and 1.5% on the callus cells. The Iraq wheat variety was grown in vitro for the purpose of knowing the effect of salt stress on some indicators and cellular components of callus by using a randomized complete design, at the laboratories of tissue culture propagation date palm unit in the College of Agriculture / University of Kufa during the period 2014-2015. Fresh and dry weight, the rate of absolute growth, percentage of dry matter of callus, content of the callus cells of proline, total soluble carbohydrates, sodium and potassium ions, effectiveness of the enzymes catalase and peroxidase study shock salt proteins in callus we
... Show MoreBackground: The oral cavity is considered as a complex ecological niche, its complex microbial community is reflected to it. Streptococcus mutans has been implicated as one of the major etiological factor of dental caries. Tooth surfaces colonized with Streptococcus mutans are at a higher risk for developing caries, while lactobacilli are considered as the secondary invaders, not initiators of the carious lesion. The main purpose of this study was to correlate the dental caries (for primary and permanent teeth) in the upper jaw with the streptococcus mutans and lactobacilli count in the dental plaque and saliva, also to correlate the dental caries (for primary and permanent teeth) in the lower jaw with the streptococcus mutans and lactobaci
... Show More This study titled “digital addiction and its relationship to social isolation among children in the autism spectrum from the point of view of their parents” in which the
researcher addressed an important topic which is knowledge of digital addiction in a
child with autism spectrum and its relationship to social isolation in them.
The study aimed to dhed the light on the digital addiction in a spectrum child Autism
from the point of view of their parents، by knowing the extent of addiction of children
in the autism spectrum، and identifying the relationship between electronic addiction and the social isolation of children in the autism spectrum.The study presented
several hypotheses،
Background: This research identified Streptococci spp. depending on culture, biochemistry, the VITEK technique, ability to produce biofilms, and antibiotic resistance. Aim: The goal of this study was to perform microbiological procedures to evaluate the qualitative qualities of mozzarella cheese against infective Streptococci using microbiological care. Methods: Sixty (60) mozzarella cheese samples were brought from diverse markets in Baghdad from October 2023 to December 2023 at the Zoonoses Research Unit and Veterinary Public Health Department, Veterinary Medicine College, University of Baghdad. Culture of samples on agar (MacConkey and blood) and aerobically incubated at 37°C for 48 hours. Gram staining purified colonies to
... Show MoreIn this research the a-As flims have been prepared by thermal evaporation with thickness 250 nm and rata of deposition r_d(1.04nm/sec) as function to annealing temperature (373 and 473K), from XRD analysis we can see that the degree of crystalline increase with T_a, and I-V characteristic for dark and illumination shows that forward bias current varieties approximately exponentially with voltage bias. Also we found that the quality factor and saturation current dependence on annealing temperatures.
In this research the a-As flims have been prepared by thermal evaporation with thickness 250 nm and rata of deposition (1.04nm/sec) as function to annealing temperature (373 and 373K), from XRD analysis we can see that the degree of crystalline increase with , and I-V characteristic for dark and illumination shows that forward bias current varieties approximately exponentially with voltage bias. Also we found that the quality factor and saturation current dependence on annealing temperatures.
Objective To highlight the main demographic characteristics and clinical profiles of female patients registered with breast cancer in Iraq; focusing on the impact of age.Methods This retrospective study enrolled 1172 female patients who were diagnosed with breast cancer at the Main Center for Early Detection of Breast Cancer/Medical City Teaching Hospital in Baghdad. Data were extracted from an established information system, developed by the principal author under supervision of WHO, that was based on valid clinical records of Iraqi patients affected by breast cancer. The recorded information regarding clinical examination comprised positive palpable lumps, bloody nipple discharge, skin changes, bilateral breast involvement, tumor
... Show MoreBackground: Behçet’s disease (BD) is a disorder of systemic inflammatory condition. Its important features are represented by recurrent oral, genital ulcerations and eye lesions. Aims. The purpose of the current study was to evaluate and compare cytological changes using morphometric analysis of the exfoliated buccal mucosal cells in Behçet’s disease patients and healthy controls, and to evaluate the clinical characteristics of Behçet’s disease. Methods. Twenty five Behçet’s disease patients have been compared to 25 healthy volunteers as a control group. Papanicolaou stain was used for staining the smears taken from buccal epithelial cells to be analyzed cytomorphometrically. The image analysis software has been used to
... Show More