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.
Glass Fiber Reinforced Polymer (GFRP) beams have gained attention due to their promising mechanical properties and potential for structural applications. Combining GFRP core and encasing materials creates a composite beam with superior mechanical properties. This paper describes the testing encased GFRP beams as composite Reinforced Concrete (RC) beams under low-velocity impact load. Theoretical analysis was used with practical results to simulate the tested beams' behavior and predict the generated energies during the impact loading. The impact response was investigated using repeated drops of 42.5 kg falling mass from various heights. An analysis was performed using accelerometer readings to calculate the generalized inertial load
... Show MorePhase-change materials (PCMs) have a remarkable potential for use as efficient energy storage means. However, their poor response rates during energy storage and retrieval modes require the use of heat transfer enhancers to combat these limitations. This research marks the first attempt to explore the potential of dimple-shaped fins for the enhancement of PCM thermal response in a shell-and-tube casing. Fin arrays with different dimensions and diverse distribution patterns were designed and studied to assess the effect of modifying the fin geometric parameters and distribution patterns in various spatial zones of the physical domain. The results indicate that increasing the number of
Researchers used different methods such as image processing and machine learning techniques in addition to medical instruments such as Placido disc, Keratoscopy, Pentacam;to help diagnosing variety of diseases that affect the eye. Our paper aims to detect one of these diseases that affect the cornea, which is Keratoconus. This is done by using image processing techniques and pattern classification methods. Pentacam is the device that is used to detect the cornea’s health; it provides four maps that can distinguish the changes on the surface of the cornea which can be used for Keratoconus detection. In this study, sixteen features were extracted from the four refractive maps along with five readings from the Pentacam software. The
... Show MoreBackground: Waterpipe tobacco smoking has become common especially among young people, Waterpipe smoking misconcepted as a safer mean of smoking, so in this study we will highlight the effect of Waterpipe smoking ‎on periodontal and oral health.‎ Materials and method. The selected ‎‎‎100 male subjects of 30-40 years, ‎categorized into 4 groups (each group ‎‎25 subject): Waterpipe smoker ‎with ‎healthy periodontium, ‎Waterpipe smoker ‎‎with chronic periodontitis, Non-‎‎smoker ‎with healthy periodontium and Non-smoker ‎with chronic periodontitis. Whole ‎unstimulated ‎saliva was collected. Clinical measurements: plaque ‎index
... Show MoreBackground : To assess the actual practice of breast self-examination (BSE), as an early detection tool for breast cancer, among a sample of patients affected with breast cancer in Iraq.Methods: A random sample of 200 female patients with breast cancer was analyzed to evaluate the extent of their actual practice of breast self-examination before the diagnosis of the disease. The examined variables included the age of the patients, marital status, education, occupation, smoking habit, family history of cancer, frequency of gravidity, parity and abortions. Results: The age of patients ranged from (24-70) years with a mean age of 48 years. The highest frequency of the examined sample
... Show MoreSeveral toxigenic cyanobacteria produce the cyanotoxin (microcystin). Being a health and environmental hazard, screening of water sources for the presence of microcystin is increasingly becoming a recommended environmental procedure in many countries of the world. This study was conducted to assess the ability of freshwater cyanobacterial species Westiellopsis prolifica to produce microcystins in Iraqi freshwaters via using molecular and immunological tools. The toxigenicity of W. prolifica was compared via laboratory experiments with other dominant bloom-forming cyanobacteria isolated from the Tigris River: Microcystis aeruginosa, Chroococcus turigidus, Nostoc carneum, and Lyngbya sp. signifi
... Show MoreThe oil exports play a vital role in supporting economic development and raise the economic growth. The oil exports can increase the economic growth via three main channels which are supporting the productive, distributive and service sectors; increasing the investment and capital formation; and increasing the employment rate.
However, the oil exports did not have an important role in increasing the economic growth in Iraq. Therefore, it also did not provide the required support to other economic sectors, neither participated in increase the employees’ skills nor increase the investment rate. It may slightly contribute in enhancement the infrastructure that can attract the public and private investments
... Show MoreThis research concentrate on cultivated Iraqi Agave attenuata dried leaves and roots, because of little studies on this plant especially on the root that lead to the eager of study and comparison of phytochemical constituents between leaves and root. Extraction of bioactive constituents was carried out using several solvents with increasing polarity (n-hexane, ethyl acetate and methanol) by soxhlet apparatus. Steroidal saponins in Agave genus is well documented in many species, lightening the minds in this research on extraction method which is specific for steroidal saponins. Phytochemical screening was done by GC/MS for n-hexane fraction, qualitative and quantitative estimation of several bioactive constituents (caffe
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