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.
Solar collectors, in general, are utilized to convert the solar energy into heat energy, where it is employed to generate electricity. The non-concentrating solar collector with a circular shape was adopted in the present study. Ambient air is heated under a translucent roof where buoyant air is drawn from outside periphery towards the collector center (tower base). The present study is aimed to predict and visualize the thermal-hydrodynamic behavior for airflow under inclined roof of the solar air collector, SAC. Three-dimensional of the SAC model using the re-normalization group, RNG, k−ε turbulence viscus model is simulated. The simulation was carried out by using ANSYS-FLUENT 14.5. The simulation
... Show MoreThe piled raft is a geotechnical composite construction consisting of three elements: piles, raft and soil.
In the design of piled rafts, the load shared between the piles and the raft, and the piles are used up to a
load level that can be of the same order of magnitude as the bearing capacity of a comparable single
pile or even greater. Therefore, the piled raft foundation allows reduction of settlements in a very
economic way as compared to traditional foundation concepts.
This paper presents experimental study to investigate the behavior of piled raft system in sandy
soil. A small scale “prototype” model was tested in a sand box with load applied to the system through
a compression machine. The settlement was
This article aims to explore the importance of estimating the a semiparametric regression function ,where we suggest a new estimator beside the other combined estimators and then we make a comparison among them by using simulation technique . Through the simulation results we find that the suggest estimator is the best with the first and second models ,wherealse for the third model we find Burman and Chaudhuri (B&C) is best.
Aleksandr Isayevich Solzhenitsyn was born in 1918 in Kislovodsk. His father was educated, and despite his peasantry origin, he got a university degree. Unfortunately, however, Solzhenitsyn could not recognize his father, for he died before his birth.
Solzhenitsyn was accused of being an opponent to the Soviet Union due to his activities of that time. He was exiled to a forced labour camp for eight years, on the surroundings of Moscow. He spent three years in Kazakhstan, and was sent to the life exile. He was set free in 1956. He worked as a teacher in in rural schools in Vladimir and then in Rezhran.
His greatest works were in the reign of Kherchov, and in 1962 appeared his story under the title of "One day in
... Show MoreAfter 2003, Iraq underwent a profound political and economic transformation, accompanied by various challenges, including the burden of accumulated external debt. The post-regime government restructured Iraq’s debt within the framework of the ‘Paris Club’ and through bilateral negotiations with creditor countries. The debt rescheduling aimed to alleviate the financial burden and reintegrate Iraq into the global financial system, but this process was conditional upon implementing economic and political reforms. External political factors played a crucial role in debt rescheduling. Decisions regarding rescheduling were influenced by the political motives of major powers seeking to achieve strategic gains in Iraq. Additionally, t
... Show MoreThis research is concerned with a new type of ferrocement characterized by its lower density and enhanced thermal insulation. Lightweight ferrocement plates have many advantages, low weight, low cost, thermal insulation, environmental conservation. This work contain two group experimental : first different of layer ferrocement, second different of ratio aggregate to cement. The experiments were made to determined the optimum proportion of cement and lightweight aggregate (recycle thermestone ). A low W/C ratio of 0.4 was used with super plasticizer conforming to ASTM 494 Type G. The compressive strength of the mortar mixes is 20-25 MPa. The work also involved the determination of thermal properties .Thermal conductivity value of thi
... Show MoreThe importance of algae as a natural source of various bioactive compounds continues to grow due to their diverse biological activities. One of such compounds is n-hexadecanoic acid, more commonly known as palmitic acid; it is more lipidous than many algal species. It is one of the most common saturated fatty acids in nature. One can find it in algal, animal, and plant oils and is extracted from numerous natural sources. Its chemical and biological attributes enable its widespread use in the pharmaceutical, food, and cosmetic industries. Numerous studies have found that palmitic acid is effective for fungal activities and does have pharmaceutical and environmental promising antioxidant capabilities.
In the last years, the self-balancing platform has become one of the most common candidates to use in many applications such as flight, biomedical fields, industry. This paper introduced the simulated model of a proposed self-balancing platform that described the self–balancing attitude in (X-axis, Y-axis, or both axis) under the influence of road disturbance. To simulate the self-balanced platform's performance during the tilt, an integration between Solidworks, Simscape, and Simulink toolboxes in MATLAB was used. The platform's dynamic model was drawn in SolidWorks and exported as a STEP file used in the Simscape Multibody environment. The system is controlled using the proportional-integral-deriva
... Show MoreThe microstructure and wear properties of 392 Al alloy with different Mg contents were studied using centrifugal casting. All melted alloys were heated to 800 ºC and poured into the preheated centrifugal casting mold (200-250 ºC) at different mould rotational speeds (1500, 1900 and 2300 r.p.m). It is clear from the results obtained that wear rate was dependent on the Mg content, applied load and mould rotational speed. Furthermore, wear test showed that the minimum wear rate was found in the inner layer of produced rings at mould rotational speed of 1900 r.p.m and Mg content of 5%.