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.
Quantum dots (QDs) of zinc sulfide (ZnS) was prepared by chemical reaction with different potential of hydrogen (pH) and used to fabricate organic quantum dot hybrid junction device. The optical properties of QDs were characterized by ultraviolet-visible (UV-Vis.) and photoluminescence (PL) spectrometer. The results show that the prepared QDs were nanocrystalline with defects formation. The energy gap (Eg)calculated from PL were 3.64, 3.53 and 3.35 eV for pH=8, 10 and 12 respectively. This decreasing of energy gaps is results of the effect the pH solution increases, which in turn leads to the shifted of the PL spectrum toward red shifted, which makes the energy bands at surface states are shallow ban
... Show MoreBackground: Coronary artery disease remains the main cause of death despite several preventive programs. Epicardial adipose tissue is a visceral fat depot of the heart located along the large coronary arteries and on the surface of ventricles and apex. Intima media thickness is commonly recognized as the initial stage in the development of atherosclerosis. The development of ultrasound machines, advances in echocardiographic devices and high resolution transducers facilitate comprehensive analysis of epicardial fat thickness (EFT) and carotid –intima media thickness (C-IMT).
Aim: To investigate the relationship of echocardiographic epicardial fat thickness (EFT) and carotid –intima media thickness (C-IMT) with the severity of coro
Coronary heart disease (CHD) is the leading cause of death in United State (U.S.). Controlling of modifiable risk factors such as smoking, hypertension (HT), diabetes mellitus (D.M.), dyslipidemia, physical inactivity & obesity will prevent other serious cardiovascular complications
The relationship of hyperuricemia to kidney disease, diabetes, hypertension and the risk of cardiovascular diseases remain controversial. The aim of this study is to evaluate the use of uric acid (UA) levels to find the higher risk of cardiovascular disease (CVD) in patients with end stage renal disease that have diabetic nephropathy (DN), nephropathy with hypertension (NH) and patients with both diabetic nephropathy with hypertension (DNH). This study deals with 115 patients with end-stage renal disease under hemodialysis sub-grouped into 35 patients with (DN), 40 patients with (NH), and 40 patients with (DNH). Some biochemical parameters were determined in the serum of all participants such as HbA1c, fasting blood glucose (FBG), UA, urea,
... Show MoreGenus Salix is among family Salicaceae, distributing in the northern hemisphere. It is represented in Egypt by two species (Salix mucronata and Salix tetrasperma). The classification of Salix at the generic and infra-generic levels is still outstanding. We have agreed to list the Egyptian species of this genus. We collected them during field trips to most Egyptian habitats; fresh and herbarium specimens were subjected to taxonomic revision based on morphological characters; scanning electron microscope (SEM) for pollen grains; isozyme analysis using esterase and peroxidase enzymes and genetic diversity using random amplified polymorphic DNA (RAPD). We recorded that both sexes of S.
Road accidents have been identified as one of the main causes of death and have a significant effect on public health challenges, economic growth and development. The Iraqi transport infrastructure has suffered from the effects of war, carelessness, and lack of investment. As a result, road traffic accidents have increased, and the current efforts to address road safety are minimal in comparison to the growing level of citizen suffering. The objective of this study was to provincially analyze traffic accidents in Iraq using data from 2010 to 2020 to shed light on the current situation. Three key conclusions were made from the results: first, people aged 35 years and under was the age group recorded in the most traffic accidents; second, Al-
... Show MoreRoad accidents have been identified as one of the main causes of death and have a significant effect on public health challenges, economic growth and development. The Iraqi transport infrastructure has suffered from the effects of war, carelessness, and lack of investment. As a result, road traffic accidents have increased, and the current efforts to address road safety are minimal in comparison to the growing level of citizen suffering. The objective of this study was to provincially analyze traffic accidents in Iraq using data from 2010 to 2020 to shed light on the current situation. Three key conclusions were made from the results: first, people aged 35 years and under was the age
The image caption is the process of adding an explicit, coherent description to the contents of the image. This is done by using the latest deep learning techniques, which include computer vision and natural language processing, to understand the contents of the image and give it an appropriate caption. Multiple datasets suitable for many applications have been proposed. The biggest challenge for researchers with natural language processing is that the datasets are incompatible with all languages. The researchers worked on translating the most famous English data sets with Google Translate to understand the content of the images in their mother tongue. In this paper, the proposed review aims to enhance the understanding o
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