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.
Cybercrime and risks to children between the problems and solutions( An analytical study in the light of international, Arab and national statistics).
Lies the problem of the study to identify a new type of crime is different from the same traditional character of the crimes or what was customary since human creation up to the information revolution and we enter the era of globalization, which is also called (cyber crime) and their negative impact on all segments of society, especially children, as they the day of the most important social security threats, for all local and international communities alike , and those risks require collective action to various sectors and segments of society ,especially the educated classes in order t
Background: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system, in which the myelin sheaths got injured. The prevalence of MS is on grow, as well as, it affects the young ages. Females are most common to have MS compared to males. Oxidative stress is the situation of imbalance between oxidants (free radicals and reactive oxygen species (ROS)) and antioxidants in a living system, in which either the oxidants are elevated or antioxidants are reduced, or sometimes both. ROS and oxidative stress have been implicated in the progression of many degenerative diseases, which is important in cracking the unrevealed mysteries of MS. In this review article, some of the proposed mechanisms that link oxidative stres
... Show MoreThe study includes collection of data about cholera disease from six health centers from nine locations with 2500km2 and a population of 750000individual. The average of infection for six centers during the 2000-2003 was recorded. There were 3007 cases of diarrhea diagnosed as cholera caused by Vibrio cholerae. The percentage of male infection was 14. 7% while for female were 13. 2%. The percentage of infection for children (less than one year) was 6.1%, it while for the age (1-5 years) was 6.9%and for the ages more than 5 years was 14.5%.The total percentage of the patients stayed in hospital was 7.7%(4.2%for male and 3.4%for female). The bacteria was isolated and identified from 7cases in the Central Laboratory for Health in Baghdad. In
... Show MoreThree different types of nozzles (different wear rate) were used in this study. They are classified depending on the severity of their wear to three groups: new, worn and damaged nozzles. Those nozzles were spraying with the same application rate (303 l/ha) on two-year field trials; this was achieved by changing the spraying pressure for each group of nozzles in order to get the same application rate. This practice is usually done by operators of sprayers, who calibrate the sprayers on the same application rate every year without changing the nozzles, so they tend to reduce the spraying pressure in order to compensate the flow rate increase due to the nozzles yearly wear. Two types of
In this research we study a variance component model, Which is the one of the most important models widely used in the analysis of the data, this model is one type of a multilevel models, and it is considered as linear models , there are three types of linear variance component models ,Fixed effect of linear variance component model, Random effect of linear variance component model and Mixed effect of linear variance component model . In this paper we will examine the model of mixed effect of linear variance component model with one –way random effect ,and the mixed model is a mixture of fixed effect and random effect in the same model, where it contains the parameter (μ) and treatment effect (τi ) which has
... Show MoreBackground: Imaging has a critical role in the diagnosis and evaluation of cardiac diseases, beginning with chest radiography and fluoro-scopy and progressing to coronary angio-graphy, echocardiography, nuclear medicine and recently multidetector computed tomo-graphy (MDCT) as well as magnetic resonance (MR) imaging
Objective: To highlight the role of Multi-detector CT in the evaluation of coronary artery disease and its importance of being noninvasive diagnostic technique.
Methods: A cross sectional study for 20 patients. Patients were asked to fast 6 hours prior to the examination and the patients with heart rates above 65 beats per minute were given cardio-
... Show MoreVaccination against novel Coronavirus (SARS-CoV-2) become highly recommended. In Iraq, three vaccines are available. They are Pfizer-Biontech, Oxford-AstraZenica, and Sino harm vaccines. A cross-sectional retrospective study was performed to a total of 2399 individual who are vaccinated with one of the available vaccines. People who are infected with Covid-19 before and/or after vaccination of either studied SARS-CoV-2 vaccines were also involved in this study (1175 case). Signs and symptoms have been reported for each of confirmed positive cases of Coronavirus disease. Statistical data analyses were applied to reveal the effect of different SARS-CoV-2 vaccines on the incidence of novel coronavirus disease among Iraqi population. Also, the
... Show MoreTitanium dioxide nanotube arrays (TiO2 NTAs) were successfully decorated with nanoclusters of cobalt by an electrochemical deposition method. This Co-TiO2 NTAs nanostructure exhibited high compatibility with aluminum chloride\ chloroacetamide (an ionic liquid) and calcium chloride dihydrate\ acetamide (a deep eutectic solvent), leading to significant improvements in the electrochemical properties of the system. Significantly, this led to a discernible augmentation in both potential and current values, concomitant with a decrease in internal resistance. The presence of cobalt facilitated a faster transfer of electric charge, enhancing the overall efficiency of the system. Moreover, the incorporation of cobalt exhibited a ben
... Show MoreThe study aimed to design a test of pre-writing skills for public kindergartens in Baghdad city. The test consisted of (25) items applied on a sample of (150) kindergarteners to identify these skills as well as to identify the significant difference between male and female children and if there is a difference between pre-school children and kindergarteners. The results showed the presence of pre-writing skills with a high degree in kindergarten children. The differences were clear in these skills between male and female children and those in pre-school than those in kindergartens. The researcher suggested a number of recommendations and proposals.
Background: Intestinal infections are frequently occur among children with cancer who receive chemotherapy. On the other hand, diarrhea is especially common and severe among cancer patients that develop neutropenia, either due to the disease itself or due to the intensive chemotherapy. There are many causes of diarrhea among those patients, but intestinal infections still an important etiology among them.
Objectives: to study the frequency of diarrhea among neutropenic children, with its infectious etiologies, especially the bacterial, fungal and parasitic causes.
Type of the study:Cross-sectional study.
Methods: the study was done in the Oncology
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