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.
The main objective of present work is to describe the feasibility of friction stir welding (FSW) for
joining of low carbon steel with dimensions (3 mm X 80 mm X 150 mm). A matrix (3×3) of welding
parameters (welding speed and tool rotational speed) was used to see influence of each parameter on
properties of welded joint .Series of (FSW) experiments were conducted using CNC milling machine
utilizing the wide range of rotational speed and transverse speed of the machine. Effect of welding
parameters on mechanical properties of weld joints were investigated using different mechanical tests
including (tensile and microhardness tests ). Micro structural change during (FSW) process was
studied and different welding zones
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Bir millet veya topluluk kendi varlığını ancak kültürel değerleri ile koruyabilecek; gelecek nesillere aktarabilecek ve dünyanın diğer milletlerine tanıtabilecektir. Böylece dünya milletleri arasında ortak kültürel ve toplumsal değerler tespit edilecek ve bu ortak değerlerden hareketle insanlık hizmetine sunulabilecek çok güzel çalışmalar hazırlanabilecektir. Taşıdıkları zengin kültürel ve toplumsal değerlerinden dolayı masalların halk edebiyatı ürünlerinin şah damarı niteliğinde oldukları söylenebilir. Bu çalışmada Türk okuruna Bağdat halk masallarını tanıtmak için sahadan derlenen on masal metnine yer verilmiştir. Bağdat masal metinlerinin tip ve motif
... Show MoreThe sentence is one building unit in a music that has a full meaning which in the end takes a long silence .The sentence bases made the sentences with intransitive verb ( non connection ) and the sentences are made with general verb (connection ) .The sentence parts :Verbal sentence –supportive sentence , sentence without a verb .
The method of divide the sentence into these syntax units ( face division ) or (analysis and to each of the syntax units resulted from dividing the sentence to sections made to the end the characterizes the smaller syntax units ,the words .The method of analyze the surface structure of Persian language sentence is exchange method.  
... Show MoreThe aim of this paper is to introduce the concepts of asymptotically p-contractive and asymptotically severe accretive mappings. Also, we give an iterative methods (two step-three step) for finite family of asymptotically p-contractive and asymptotically severe accretive mappings to solve types of equations.
This study was designed to evaluate the effect of major surgery on thyroid hormones and thyrotropin in patient undergoing major lower abdominal surgery. The study included fifty patients scheduled for elective major lower abdominal surgery, the serum levels of T3, T4 and TSH were determined one day preoperatively, intraoperative, one day postoperatively, two days postoperatively, and rT3 was determined one day preoperatively, and one day postoperatively. We observed that the levels of (T3, T4, TSH) increased significantly (P<0.05) intraoperatively, one day postoperatively the levels of T3 and T4 reduced significantly (P<0.05), while TSH reduced not significantly (P>0.05), and two days postoperatively T4 and TSH returned to increase si
... Show MoreWater flow into unsaturated porous media is governed by the Richards’ partial differential equation expressing the mass conservation and Darcy’s laws. The Richards’ equation may be written in three forms,where the dependent variable is pressure head or moisture content, and the constitutive relationships between water content and pressure head allow for conversion of one form into the other. In the present paper, the “moisture-based" form of Richards’ equation is linearized by applying Kirchhoff’s transformation, which
combines the soil water diffusivity and soil water content. Then the similarity method is used to obtain the analytical solution of wetting front position. This exact solution is obtained by means of Lie’s
Scientists were interested in the statement of the concept of companions and the definition of the companion in terms of his status or his novel or inherent to the Prophet of Allah (peace be upon him) and was for those who did not walk in the translations and the abundant share in this work, and among these scientists Hafiz Shams al-Din al-Dhahabi, which was translated to the companions His books, indicating their status and effort, and who had a novel of them - what we will see in the folds of the research, God willing -
One’s character is shaped by the family he/she has and the way he/she is raised up. Bad parents affect their children tragically, and the later consequences, the parents are the ones who pay for being bad ones. Tracy Letts explores the dark side of family life in his domestic play August: Osage County (2007), one of the most well-known contemporary plays of American theatre in the twenty-first century. The playwright presents the Westons as an embodiment of the image of family disconnected relationships due to bad parenting. Violet is a model of a bad mother who plays a prominent role in destroying her family. The impact of bad parenting is revealed in the circle of the formerly abused children who turned to be abusers of their children o
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