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.
In this research, Fuzzy Analytic Hierarchy Process technique is applied (Fuzzy AHP) which is one of multi-criteria decision making techniques to evaluate the criteria for urban planning projects, the project of developing master plan of Al-Muqdadiyah city to 2035 has been chosen as a case study. The researcher prepared a list of criteria in addition to the authorized departments criteria and previous researches in order to choose optimized master plan according to these criteria. This research aims at employing the foundations of (Fuzzy AHP) technique in evaluating urban planning criteria precisely and flexible. The results of the data analysis to the individuals of the sample who are specialists, in this aspect. The la
... Show MoreThe aim of this study is to investigate the feasibility of underground storage of gas in Um El-Radhuma formation /Ratawi field. This formation is an aquifer consisting of a high permeable dolomitebeds overlain by impermeable anhydrite bed of Rus formation. Interactive petrophysics (IP), Petrel REand Eclipse 100 softwares were used to conduct a well log interpretation, build a reservoir simulationmodel and predict the reservoir behavior during storage respectively. A black oil, three dimensionaland two phase fluid model has been used. The results showed that the upper part of Um El-Radhumaformation is suitable for underground gas storage, because of the seal of its cap rock and capability ofreserving gas in the reservoir. It was foun
... Show MoreThis report explores emerging techniques to boost multimedia transfer effectiveness, given the escalating need for improved quality and performance in multimedia interactions. The analysis involves a thorough literature assessment and comparison of present strategies to pinpoint key tendencies and propose novel approaches. The methodology involves examining recent technological enhance ments in video coding standards, quality appraisal methods, and compression tech niques. Specific domains investigated comprise firmware component architectures, 4D indexing structures, and iterative filtering frameworks. The study in addition weighs tradeoffs between video quality, encoding intricacy, and bitrate demands. Key determinations consist of
... Show MoreThe field of structural optimization (optimal design) has grown rapidly over the past decades with many different optimization methods that could be used to produce a structure of minimum weight. This research deals with two aspects, in the first, a general numerical technique based on the finite element analysis and it suggests to investigate the preliminary behavior of metal stiffened plate under action of static load environment. The technique was included a finite element model of the structures using high- order isoparimetric plate elements to be used to create a certain models to obtain their optimum design. The models are characterized such that, each model is builded using different types of stiffener configuration. The second as
... Show MoreBackground: Acne is a common disorder experienced by adolescents and persists into adulthood in approximately 12%–14% of cases with psychological and social implications of high gravity. Fractional resurfacing employs a unique mechanism of action that repairs a fraction of skin at a time. The untreated healthy skin remains intact and actually aids the repair process, promoting rapid healing with only a day or two of downtime. Aims: This study, was designed to evaluate the safety and effectiveness of fractional photothermolysis (fractionated Er: YAG laser 2940nm) in treating atrophic acne scars. Methods: 7 females and 3 males with moderate to severe atrophic acne scarring were enrolled in this study that attained private clinic for Derm
... Show MoreOne of the most frightening to children ages pre-school entry , Are those concerns about natural phenomena such as (The darkness, the sound of thunder, lightning and light, and rainfall, and storms) These natural phenomena are not familiar to the child , It may have a surprise when he/ she sees , And others intimidated , The affects of panic and fears that may lead him some psychological injury symptoms.
The fear of the dark, of the most common concerns associated with the child in his daily life , As the children's fear of the dark is reasonably fear that makes him a natural to live in the unknown , We can not identify what around him and is afraid of something collision, Or injury from somet
... Show MoreEvery year, millions of tons of waste glass are created across the globe. It is disposed of in landfills, which is unsustainable since it does not disintegrate into the environment. This study aims to produce reactive powder concrete by using recycled glass powder and determine the influence on the mechanical properties. This study investigated the effect of partial replacement of cement with recycled glass powder at two percentages (0, 20) % by weight of cement on some mechanical properties (Fresh density, Splitting tensile strength, Impact Strength, and voids%) of reactive powder concrete containing 1 % micro steel (MSRPC). Furthermore, using steam curing for (5 hours) at 90 degrees celsius after hardening the sample directly, RPC was
... Show MoreThe growing population and the rising standard of living in cities as well as the increased commercial, industrial and agricultural activities around the world led to
massive production of waste containing different materials and one of them is the municipal solid waste (MSW), so there is a major problem facing the cities around the world about the waste, how to collect, transfer it and how to discard it. Because the accumulation of wastes, whether in the city alleys or in its squares and especially in its residential areas affect the health of their populations besides this situation will be a major indication of the deteriorating quality of life in the city, as hygiene considered a fundamental criterion for the city beauty as well
Synthetic anti-TB drugs are being used to treat tuberculosis (TB) as they are effective, however, they are accompanied by many side effects. The disease has remained largely uncured till date. The use of plant extracts or phytochemicals along with the anti-TB drugs is a very attractive strategy to make the treatment more effective as phytochemicals have no side-effects, are much less toxic than synthetic anti-TB drugs, are safe to use and most importantly, do not produce resistant strains as opposed to synthetic anti-TB drugs. Approximately 420,000 plant species have been identified globally and among them only a few have been explored for their therapeutic potential. Traditional medicine in different parts of the world has employed crud
... Show MoreIn this paper a dynamic behavior and control of a jacketed continuous stirred tank reactor (CSTR) is developed using different control strategies, conventional feedback control (PI and PID), and neural network (NARMA-L2, and NN Predictive) control. The dynamic model for CSTR process is described by a first order lag system with dead time.
The optimum tuning of control parameters are found by two different methods; Frequency Analysis Curve method (Bode diagram) and Process Reaction Curve using the mean of Square Error (MSE) method. It is found that the Process Reaction Curve method is better than the Frequency Analysis Curve method and PID feedback controller is better than PI feedback controller.
The results s
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