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.
Visualization of water flow around different bluff bodies at different Reynolds number ranging (1505 - 2492) was realized by designing and building a test rig which contains an open channel capable to ensure water velocity range (4-8cm/s) in this channel. Hydrogen bubbles generated from the ionized water using DC power supply are visualized by a light source and photographed by a digital camera. Flow pattern around a circular disk of (3.6cm) diameter and (3mm) thickness, a sphere of (3.8cm) diameter and a cylinder of
(3.2cm) diameter and (10cm) length are studied qualitatively. Parameters of the vortex ring generated in the wake region of the disk and the separation angle of water stream lines from the surface of the sphere are plott
Linear programming currently occupies a prominent position in various fields and has wide applications, as its importance lies in being a means of studying the behavior of a large number of systems as well. It is also the simplest and easiest type of models that can be created to address industrial, commercial, military and other dilemmas. Through which to obtain the optimal quantitative value. In this research, we dealt with the post optimality solution, or what is known as sensitivity analysis, using the principle of shadow prices. The scientific solution to any problem is not a complete solution once the optimal solution is reached. Any change in the values of the model constants or what is known as the inputs of the model that will chan
... Show MoreMethylotrophs bacteria are ubiquitous, and they have the ability to consume single carbon (C1) which makes them biological conversion machines. It is the first study to find facultative methylotrophic bacteria in contaminated soils in Iraq. Conventional PCR was employed to amplify MxaF that encodes methanol dehydrogenase enzyme. DNA templates were extracted from bacteria isolated from five contaminated sites in Basra. The gene specific PCR detected Methylorubrum extorquens as the most dominant species in these environments. The ability of M. extorquens to degrade aliphatic hydrocarbons compound was tested at the laboratory. Within 7 days, gas chromatographic (GC) studies of remaining utilize
... Show MoreOne of these plants utilized in traditional medicine is Lactuca seriolla Linn., which belongs to the Asteraceae family. It goes by a variety of common names in the world, including prickly lettuce, wild lettuce, jagged lettuce, and Kahu and khas. The work aimed to isolate and characterize some bioactive constituent(s) from the aerial part of Lactuca serriola utilizing Combiflash NEXTGEN and high-performance liquid chromatography (HPLC). Lactuca serriola (aerial part) was extracted with 80% ethanol, then fractionated with hexane. Then 250 mg of hexane extract was mixed with 4 g of silica gel and loaded in cartilage, then bounded to the gold column of combi flash using a solvent system comprised of ethyl acetat
... Show MoreAs a marker of systemic inflammation, raised (C-reactive protein (CRP)) concentrations which are still within the normal range have been associated with an increased inflammation of chronic renal diseases (CRD). The current study aimed to establish potential determinats of raised CRP concentrations in patients who treated in Heamodialysis room,then study the relationship between CRP& some biochemical parameters related CRD We used a CRP latex reagents Kit which is based on an immunological reaction between CRP antisera bounded to the biologically inert latex particles or with CRP in the test specimens of 19 patients with (CRD) mean age 48 years ,range = 30?65 & in 21 healthy subjects as control group their age range = 30 ?45 years. The
... Show MoreObjective This study aimed to compare the biomechanics of three-point shooting between elite Iraqi basketball players and international players, in order to identify key biomechanical differences that may impact shooting performance. Methods A total of 80 male basketball players participated in the study (40 elite Iraqi players and 40 international elite players). Kinematic data were collected using advanced motion analysis systems, force plates, and high-speed video analysis. The measured variables included joint angles, angular velocity, release speed, ball release angle, and ground reaction forces during three-point shooting. Each player performed 20 consecutive shots under controlled conditions. Group comparisons were conducted using st
... Show MoreMultiple sclerosis (MS) is a chronic, inflammatory, immune mediated disease of the central nervous system, mostly affecting young adults with mean age of 30 years, twice as high in women compared to men. The etiology of MS is not fully elucidated. MS symptoms are directly related to demyelination and axonal loss, along with other psychological symptoms, can result in functional limitations, disability and reduced quality of life (QoL). The QoL assessments in patients with a chronic disease may contribute to improving treatment and could even be of prognostic value. The goals of this study were to compare the QoL of Iraqi patients with relapsing remitting multiple sclerosis (RRMS),using three different diseas
... Show MoreSickle cell disease (SCD) comprises an inherited blood disorder that is life long and affects many people globally. In spite of the development in treatment, SCA is a considerable cause of mortality and morbidity. The present study tries to assess the role of leukocytes represented by β integrin(CD18) and platelets and their productivity in the pathogenicity of disease during the steady state and crisis in comparison with the healthy as-control group, SCD patients (15) enrolled during crisis and steady state (follow up) showed a significant increase in leukocytes and platelets cells productivity during crisis when compared to the steady state and in the steady state when compared to the healthy control group . In this study, SCD patho
... Show MoreThe aim of this study is to evaluate oxidative stress in diabetes mellitus (DM) Type1 by the measurement of Glucose-6-phosphate Dehydrogenase (G-6-PD), an enzyme expressed in human RBCs, is important in the generation of reduced glutathione which is the key product in oxidative stress controls. The Study was carried on 80 samples of blood and serum of National Diabetes Center (NDC). The study groups under fasting conditions and they divided as:20 samples of diabetes mellitus patients without complications and 20 samples of diabetes mellitus with cardiovascular (CV) complications and 20 samples of diabetes mellitus with Nephropathy (Neph) complications compared with 20 control group with average age (13-67) years.. The results sh
... Show MoreLeishmaniasis is a group of parasitic diseases caused by Leishmania spp., an endemic infectious agent in developing countries, including Iraq. Diagnosis of cutaneous lesion by stained smears, serology or histopathology are inaccurate and unable to detect the species of Leishmania. Here, two molecular typing methods were examined to identify the promastigotes of suspected cutaneous leishmaniasis samples, on a species level. The first was species-specific B6-PCR and the second was ITS1-PCR followed by restriction fragment length polymorphism (RFLP) using restriction enzyme HaeIII. DNA was extracted from in vitro promastigote culture followed by amplification of kDNA by B6 or amplification and digestion of LITSR/L
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