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 we reported the synchronization delay in
semiconductor laser (SL) networks. The unidirectional
configurations between successive oscillators and the correlation
between them are achieved. The coupling strength is a control
parameter so when we increase coupling strength the dynamic of the
system has been change. In addition the time required to synchronize
network components (delay of synchronization) has been studied as
well. The synchronization delay has been increased by mean of
increasing the number of oscillators. Finally, explanation of the time
required to synchronize oscillators in the network at different
coupling strengths.
This paper deals to how to estimate points non measured spatial data when the number of its terms (sample spatial) a few, that are not preferred for the estimation process, because we also know that whenever if the data is large, the estimation results of the points non measured to be better and thus the variance estimate less, so the idea of this paper is how to take advantage of the data other secondary (auxiliary), which have a strong correlation with the primary data (basic) to be estimated single points of non-measured, as well as measuring the variance estimate, has been the use of technique Co-kriging in this field to build predictions spatial estimation process, and then we applied this idea to real data in th
... Show MoreOtitis media with effusion (OME) is the long-term deposition of mucus in the middle ear cleft. It is the leading cause of childhood hearing loss and a common childhood infection. It can impair communication and life quality. OME's direct and indirect costs are also crucial. Improving OME care is crucial. This study examines intranasal mometasone's efficacy in treating otitis media with effusion. A clinical trial study was conducted during a period from January 2021 to June 2022. It included 80 patients suffering from otitis media with effusion bilaterally (160 ears) who had an intact tympanic membrane and tympanometry type B. These patients were included only if they had a hearing change or loss noted by the parents or by the patien
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Today, the Islamic nation is going through a phase that is one of the most dangerous that it has never experienced before. This phase was characterized by the following:
The nation is divided into states and its weakness in most of its doctrinal, political, social, economic and moral aspects.
Enemies targeting the nation's faith and capabilities, and the emergence of loyalty to the enemies of the nation from some groups of society, spreading misconceptions in the Muslim community.
Spreading the spirit of rebellion in all segments of society and striving to stir up the people against the rulers and put pressure on the rulers.
All these manifestations and others require the nation's wise men
... Show MorePlentiful of healthcare practice is based on a disease/treatment approach rather than a prevention one. That is, the predominant focus is on treating existing symptoms and conditions that bring the patient to healthcare setting. There is no doubt about the significance of this approach for acute conditions, but there is some question whether this is the most efficient and effective way of distributing healthcare for increasing number of diseases and limited resources.
The evidences from everywhere have showed the profound cost benefit of prevention in healthcare practice. Healthy community, therefore, is the ultimate aim in any health services planning. The priority of care giver is shifted now to promote health and prevent
... Show MoreThe study aims to identify the neurological perfectionism of talented girls with disabilities and do a case study for one of these girls. The sample of the study consisted of (11) female students at the university level, 5 females with disability and (6) normal female-students. The sample also included (19) secondary school female students in Tabuk region, including 10 students with visual disability and (9) normal students. The case study was limited to one case of mentally superior girls (talented) with kinetic disability. The researcher adopted the descriptive methodology (case study), he used neurological perfectionism scale, Salah Mekhemar interview, Stanford interfacial intelligence scale fifth picture, case study form. The re
... Show MoreBackground: Beta thalassemia is a typically autosomal recessive form of severe anemia which is caused by an imbalance of two types of protein (alpha and beta) subunits of hemoglobin. Oxidative stress imbalance is the equilibrium between pro-oxidant\antioxidant statuses in cellular system, which results in damaging the cells. Antioxidant is a chemical that delays the start or slows the rate of lipid oxidation reaction and it play a very important role in the body defense system against reactive oxygen species. The aims of this study were to recorded the oro-facial manifestations in beta thalassemic patients and assess the oxidative stress marker malondialdehyde in serum and salivs and their role in the pathogenesis of beta thalassemia and ev
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