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.
A colorectal polyp (CRP) is a growth on the lining of the colon or rectum. The incidence of CRPs is rapidly increasing with age. They are most often benign. The rectum is the most commonly affected site.
To determine the incidence, clinical presentation, and histopathologic types of CRP in Iraqi patients.
It is a cross-sectional screening study conducted in the medical c
Abstract\
preparation process of performance evaluation in organizations is of extreme importance, and under development in organizations and the opening of markets and technological developments in the industry and heightened competition among industrial organizations imposed systems are built for performance give a clear picture about performance and competition, And centered research problem in answering the following questions: Is performance evaluation system is available in Wasit State Company for Textile Industries(Research sample ), This research aims to assess the performance of policies and programs in the company, according to guide performance evaluation of programs and policies prepared by the Dutch Cou
... Show MoreThe investment however "was its description and meaning, it remains a resident" in the composition of capital assets located in the forefront of the creation of productive assets, and this means that the investment in the productive sectors is a priority in achieving capital accumulation, on any other investment that takes place with the stages of advanced development of formation , not forgetting "to humans and investment humans as head of real money product, the source of the economic surplus and accumulation, and the source of producing values, and if human labor was the source of value, and the human was the source of work, therefore humanitarian work on different levels and skills presents capital", so the investment in huma
... Show MoreThe present study has three objectives: 1) to investigate the prevalence of complex nominals in economic discourse represented via the selected business news texts, 2) to shed some light on the most common translation errors made by second year students in the Department of Translation in rendering complex nominals into Arabic, and 3) to detect the possible causes behind such translation errors and suggest some translation tips which might sound helpful to the students of translation to find the most suitable translation equivalent. The present study is based on an empirical survey in which a selective analysis of someeconomic texts represented in business news texts is made. A corpus of 159 complex nominals was selected from seven busin
... Show MoreThe main challenge of military tactical communication systems is the accessibility of relevant information on the particular operating environment required for the determination of the waveform's ideal use. The existing propagation model focuses mainly on broadcasting and commercial wireless communication with a highs transceiver antenna that is not suitable for numerous military tactical communication systems. This paper presents a study of the path loss model related to radio propagation profile within the suburban in Kuala Lumpur. The experimental path loss modeling for VHF propagation was collected from various suburban settings for the 30-88 MHz frequency range. This experiment was highly affected by ecological factors and existing
... Show MoreThe response of floating stone columns of different lengths to diameter ratio (L/D = 0, 2, 4, 6, 8, and 10) ratios exposed to earthquake excitations is well modeled in this paper. Such stone column behavior is essential in the case of lateral displacement under an earthquake through the soft clay soil. ABAQUS software was used to simulate the behavior of stone columns in soft clayey soil using an axisymmetric finite element model. The behavior of stone column material has been modeled with a Drucker-Prager model. The soft soil material was modeled by the Mohr-Coulomb failure criterion assuming an elastic-perfectly plastic behavior. The floating stone columns were subjected to the El Centro earthquake, which had a magnitude of 7.1 an
... Show MoreOptimized Link State Routing Protocol (OLSR) is an efficient routing protocol used for various Ad hoc networks. OLSR employs the Multipoint Relay (MPR) technique to reduce network overhead traffic. A mobility model's main goal is to realistically simulate the movement behaviors of actual users. However, the high mobility and mobility model is the major design issues for an efficient and effective routing protocol for real Mobile Ad hoc Networks (MANETs). Therefore, this paper aims to analyze the performance of the OLSR protocol concerning various random and group mobility models. Two simulation scenarios were conducted over four mobility models, specifically the Random Waypoint model (RWP), Random Direction model (RD), Nomadic Co
... Show MoreOptimized Link State Routing Protocol (OLSR) is an efficient routing protocol used for various Ad hoc networks. OLSR employs the Multipoint Relay (MPR) technique to reduce network overhead traffic. A mobility model's main goal is to realistically simulate the movement behaviors of actual users. However, the high mobility and mobility model is the major design issues for an efficient and effective routing protocol for real Mobile Ad hoc Networks (MANETs). Therefore, this paper aims to analyze the performance of the OLSR protocol concerning various random and group mobility models. Two simulation scenarios were conducted over four mobility models, specifically the Random Waypoint model (RWP), Random Direction model (RD), Nomadic Co
... Show MoreOral carcinoma is the 6th most common cancer in the world. MicroRNAs are small non-coding single stranded RNAs. They have been shown to be capable of altering mRNA expression; thus some are oncogenic or tumor suppressive in nature. The salivary microRNA-31 has been proposed as a sensitive marker for oral malignancy since it was abundant in saliva more than in plasma. A total of 55 whole saliva samples were collected from 35 cases diagnosed with OC their ages and gender matched with 20 healthy subjects. TaqManq RT-PCR was performed for RNA samples. Mean age was 52.23+13.73 years in cases (range:17-70 years) with male predominance represented 69%. Risk of smoking and alcoholism was highly significant. The median fold change of miR-31 was sign
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