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 the name of of Allah the Merciful
Praise be to God, and blessings and peace be upon the Messenger of God, Muhammad, and upon his family and his family and peace, and after:
The honor of every knowledge of honor is related to it, and since the science of interpretation is related to the Book of God Almighty; it is considered one of the most noble and longest of sciences, and this science began long ago as the early ages of Islam have expanded the Islamic state, and people entered the religion of God in cohorts, and the mixture mixed In tongues, and people did not know much about the meanings of the Qur’an, so the need for authorship in this great knowledge was severe, and pe
In this article, we will present a quasi-contraction mapping approach for D iteration, and we will prove that this iteration with modified SP iteration has the same convergence rate. At the other hand, we prove that the D iteration approach for quasi-contraction maps is faster than certain current leading iteration methods such as, Mann and Ishikawa. We are giving a numerical example, too.
... Show MoreThe present article studies the specific cultural features contained in phraseological units. The problem is approached through three different levels:
- The modern linguistic meaning.
- Lexical components of phraseological units.
- The first variables of linguistic units.
The paper emphasizes the gradual process of the cultural charge in the semantic structure of phraseological units.
Наша Статья посвящена вопросам анализа национ-ально - культурной сп
Today’s modern medical imaging research faces the challenge of detecting brain tumor through Magnetic Resonance Images (MRI). Normally, to produce images of soft tissue of human body, MRI images are used by experts. It is used for analysis of human organs to replace surgery. For brain tumor detection, image segmentation is required. For this purpose, the brain is partitioned into two distinct regions. This is considered to be one of the most important but difficult part of the process of detecting brain tumor. Hence, it is highly necessary that segmentation of the MRI images must be done accurately before asking the computer to do the exact diagnosis. Earlier, a variety of algorithms were developed for segmentation of MRI images by usin
... Show MoreIn this paper, our aim is to study variational formulation and solutions of 2-dimensional integrodifferential equations of fractional order. We will give a summery of representation to the variational formulation of linear nonhomogenous 2-dimensional Volterra integro-differential equations of the second kind with fractional order. An example will be discussed and solved by using the MathCAD software package when it is needed.
KE Sharquie, AF Hameed, AA Noaimi, Indian Journal of Pathology and Microbiology, 2016 - Cited by 12
Organic light emitting diodes (OLEDs) were fabricated containing host molecule of conjugated polymer MEH-PPV poly (2-methoxy-5-(2'-ethylhexyloxy)-1,4-phenlenevinylene) which was dissolved in chloroform solvent and doped with guest molecules MWCNTs that were dissolved in DMF solvent with different volume ratios 0.05 and 0.15, nanocomposite system which acts as active layer in OLEDs device. The Poly(3,4-ethylenedioxythiophene):poly-(styrenesulfonate) "PEDOT:PSS" and Tris98-hydroxyquinoline) aluminum "Alq3" as hole transport layer HTL and electron transport layer ETL were used respectively, to enhanced the injection charge from the electrodes to the active layer. Spin coating method used for achieving facile and low cost OLED. The absorption s
... Show MoreAim: To evaluate the side effects of Tamsulosin hydrochloride in fertility of experimental rats. Materials and methods: three groups of mice were used. First and second groups were injected [intraperitoneal (I.P.)] daily for 42 with 8 and 16 µg /kg mouse body weight (kg.b.wt) of Tamsulosin hydrochloride, respectively. Third group was injected with PBS (control). Several biological and histopathological studies were conducted on rat groups. Results: Significant decrease in number, motility and viability of epididymal sperm post injection with 16 µg /kg.b.wt, while injection with 8 µg /kg.b.wt reduced significantly, percentage of viability of sperm as compared with the control group. High percentage of abnormal sperm was observed in mice t
... Show MoreIn this work, a novel single-slope solar distillator of floating perforated absorber inserted with wicks (cotton ribbons), and a stepped distillator are designed and manufactured with the aim of developing the conventional distillator. They are examined experimentally at Baghdad, Iraq (33.3°N Latitude, 44.4°E Longitude) in order to enhance the freshwater productivity and the efficiency of the conventional distillator. Results showed that the daily productivity and efficiency of the stepped distillator are higher than that for conventional solar distillator by 30% and 36.19% respectively. The daily productivity and thermal efficiency for the distillator with the floating absorber are higher than that for the conventional distillator by 16%
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