Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.
Traumatic radial nerve injury in humeral shaft fracture is the most common traumatic nerve injury in long-bone fracture, with overall prevalence 2-18%, ranging from traction to complete transection. Spontaneous recovery may reach 88%. The aim of the study is to assess the sensitivity & specificity of the ultrasound to detect the radial nerve injury and to see if this can be used as a diagnostic test. This is a prospective study on 17 adult patients with a closed fracture of the humeral shaft, dividing into two groups, the first group of 7 patients had signs and symptoms of radial nerve palsy at presentation and the second group of 10 patients had intact radial nerve function was considered as a control group. All these patients had at leas
... Show MoreIn spite of economic importance of sugar cane and sugar beet as they described as industrial crops they still face decreasing rates of production and productivity in Iraq , and their production was not able to satisfy the local industrial demands for sugar . Thus this study aimed at studying and analyzing, production and productivity of sugar cane and sugar beet in Iraq and this has been done by using non serial data that can be obtained from official offices in Iraq . The area and production of sugar cane in Iraq recorded positive annual growth rates during 1970- 1978 which were 6% and 5% consequently , while the productivity of sugar cane recorded at the same duration of time negative annual growth rate which was 1% , while they recorded
... Show MoreVoice over Internet Protocol (VoIP) is important technology that’s rapidly growing in the wireless networks. The Quality of Service (QoS) and Capacity are two of the most important issues that still need to be researched on wireless VoIP. The main aim of this paper is to analysis the performance of the VoIP application in wireless networks, with respect to different transport layer protocols and audio codec. Two scenarios used in the simulation stage. In the first scenario VoIP with codec G.711 transmitted over User Datagram Protocol (UDP), Stream Control Transmission Protocol (SCTP), and Real-Time Transport Protocol (RTP). While, in the second scenario VoIP with codec G.726 transmitted over UDP, SCTP, and RTP protocols. Network simulator
... Show MoreIn this study, the Halder-Wagner method was used for an analysisX-ray lines of Tio2 nanoparticles. Where the software was used to calculate the FWHM and integral breath (β) to calculate the area under the curve for each of the lines of diffraction. After that, the general equation of the halder- Wagner method is applied to calculate the volume (D), strain (ε), stress (σ), and energy per unit(u). Volume (β). Where the value of the crystal volume was equal to (0.16149870 nm) and the strain was equal to (1.044126), stress (181.678 N / m2), and energy per unit volume (94.8474 J m-3).The results obtained from these methods were then compared with those obtained from each of the new paradigm of the HalderWagner method, the Shearer developm
... Show MoreObjective: To determine the impact of personal hygiene on woman who complain pelvic inflammatory disease Methodology: A quasi experimental study in the High Institute Infertility Diagnostic and A.R.T.(assistance reproductive technology) in AL-Kadimya city and al-Emamian al Kadmain medical city hospital. The sample collected during (26th ) January – (30th ) April 2014. A purposive sample of (60) women, (30) of them regard as study group and (30) regard as a control group whom they take routine care in the institute and hospital. The questionnaire consisted of socio-demographic data, reproductive heal
It is known that the science of jurisprudence is one of the most important Islamic sciences. Because it is a science that regulates the life of man and society and provides them with happiness in this world and the hereafter, if they follow its provisions with precision and care. The importance of this topic lies in the fact that it represents an urgent social need to show the compatibility of tribal customs with social jurisprudence. The job of the jurists was and still is to clarify the legal rulings according to what the Holy Qur’an has shown, and what has been reported on the authority of the Great Prophet (6) and the pure imams (:).It is no secret to everyone that the Islamic civilization is (the civilization of jurisprudence), just
... Show MoreAbstract:
The problem of poverty is one of the most important development challenges facing developing countries including Sudan for several decades. Although many efforts have been made to reduce poverty, however, its rates are increasing, and public policies adopted by the government in this regard remain elusive in achievinging its main objectives or making any significant progress. The purpose of the present study is to analyse poverty in Sudan by identifying its measurement, causes and the factors that have contributed to the increasing poverty rates over the past two decades. Also this study aims at investigating the interim poverty reduction strategy in Sudan as well as evaluates that strategy throug
... Show MoreABSTRACT This paper has a three-pronged objective: offering a unitary set of semantic distinctive features to the analysis of nominal “hatred synonyms” in the lexicon of both English and Standard Arabic (SA), applying it procedurally to test its scope of functionality crosslinguistically, and singling out the closest noun synonymous equivalents among the membership of the two sets in this particular lexical semantic field in both languages. The componential analysis and the matching procedures carried have been functional in identifying ten totally matching equivalents (i.e. at 55.6%), and eight partially matching ones (i.e. at %44.4%). This result shows that while total matching equivalences do exist in the translation of certain Eng
... Show MoreThis paper examines the use of one of the most common linguistic devices which is hyperbole. It shows how hyperbolic devices are used as an aspect of exaggeration or overstatement for an extra effect in which the speaker can use hyperbole to add something extra to a situation in order to exaggerate his idea or speech. It is, like other figures of speech, used to express a negative or positive attitude of a specific unit of language. Thus, this paper is set against a background of using hyperbole concerning two main fields (advertisements and propaganda). So, the use of hyperbole will be implied by analyzing them concerning their meaning) literal and non-literal). Methodology of this
... Show MoreBackground: Pleomorphic adenoma of the minor salivary gland is a rare benign tumor. It commonly occurs in the hard and soft palates. Treatment by surgical excision achieved success in improving the patient’s health. Objective: To evaluate the recurrence rate after surgical treatment of pleomorphic adenoma in minor salivary glands. Methods: This retrospective study included patients who attended the Maxillofacial Surgery Unit in Ghazi Al-Hariri Hospital, Baghdad, from 2019 to 2021, complaining of soft tissue lumps involving the soft and hard palate, buccal mucosa, and upper lip. After the provisional diagnosis of these lesions, a total surgical excision of the tumor with a safe margin of 1 mm was performed, and the biopsy was sent for hist
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