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 high carbon dioxide emission levels due to the increased consumption of fossil fuels has led to various environmental problems. Efficient strategies for the capture and storage of greenhouse gases, such as carbon dioxide are crucial in reducing their concentrations in the environment. Considering this, herein, three novel heteroatom-doped porous-organic polymers (POPs) containing phosphate units were synthesized in high yields from the coupling reactions of phosphate esters and 1,4-diaminobenzene (three mole equivalents) in boiling ethanol using a simple, efficient, and general procedure. The structures and physicochemical properties of the synthesized POPs were established using various techniques. Field emission scanning elect
... Show MoreCoagulation - flocculation are basic chemical engineering method in the treatment of metal-bearing industrial wastewater because it removes colloidal particles, some soluble compounds and very fine solid suspensions initially present in the wastewater by destabilization and formation of flocs. This research was conducted to study the feasibility of using natural coagulant such as okra and mallow and chemical coagulant such as alum for removing Cu and increase the removal efficiency and reduce the turbidity of treated water. Fourier transform Infrared (FTIR) was carried out for okra and mallow before and after coagulant to determine their type of functional groups. Carbonyl and hydroxyl functional groups on the surface of
... Show MoreThis study used deep eutectic solvent (DES) as the liquid membrane in a bulk liquid membrane system (BLM) to remove glycerol from waste cooking oil‐based biodiesel. The DES was prepared from choline chloride and tetraethylene glycol at a molar ratio of 1:5. Diethyl ether was employed as a novel strip phase for the glycerol in BLM. The effects of the DES: biodiesel ratio, stirring speed, and extraction time on the extraction and stripping efficiencies were investigated. The results showed that BLM could give better glycerol removal from biodiesel than mechanical shaking. Increasing the DES: biodiesel ratio, stirring speed, and extraction time can enhance glycerol removal from the feed phase, achievi
Background: The patient's vital signs must stay stable pre a pulmonary function test since the approach demands the patient to breathe slowly and deeply and exhale quickly. However, events that cause variations in normal vital signs may impact the patient. Many strategies can be utilized to stabilize vital signs, including music treatment. The purpose of this study is to compare the effectiveness of music therapy on the vital signs of client's pre a pulmonary function test. Methods: An experimental design study with an application (pre-test, post-test), to determine the effectiveness of music therapy for clients pre pulmonary function test for 106 clients in Al-Diwaniyah, Al-Shamiya, and Al- Hamza public hospitals In Iraq. Parti
... Show MoreThe uptake of Cd(II) ions from simulated wastewater onto olive pips was modeled using artificial neural network (ANN) which consisted of three layers. Based on 112 batch experiments, the effect of contact time (10-240 min), initial pH (2-6), initial concentration (25-250 mg/l), biosorbent dosage (0.05-2 g/100 ml), agitation speed (0-250 rpm) and temperature (20-60ºC) were studied. The maximum uptake (=92 %) of Cd(II) was achieved at optimum parameters of 60 min, 6, 50 mg/l, 1 g/100 ml, 250 rpm and 25ºC respectively.
Tangent sigmoid and linear transfer functions of ANN for hidden and output layers respectively with 7 neurons were sufficient to present good predictions for cadmium removal efficiency with coefficient of correlatio
... Show MoreObjectives: The study aims at identifying the nurses’ knowledge about peritoneal dialysis complications, to
construct an education program for nurses in peritoneal dialysis units, to determine the effectiveness of the
education program upon the nurses' knowledge about complications of peritoneal dialysis, and to identify the
relationship between the nurses’ knowledge and their demographic characteristics of level of education and
years of experience.
Methodology: A quasi-experimentai study was carried out at the peritoneal dialysis units of Baghdad teaching
hospitals, from April 2004 to April 2006.
٨ purposive sample of (50) nurse was selected from Baghdad teaching hospitals. These nurses working at the
perit
Idiomatic expressions in Russian journalism make one important borrowed means for making a dialogue with the receiver's intellect in so far as it has the distinct feature of having clarity and exactness of meaning. The meaning is seen as a shortcut for covering a series of concepts and details so as to arrive at the intended meaning. This is done by stimulating the reader by the use of certain clear idioms. The use of such idioms in a journalistic text is not for a linguistic purpose only, but it is a cultural and social phenomenon reflecting the type of current changes in the society and it aims at discoursing with the reader's mind. This paper is a practi
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