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.
Objective: determine the effectiveness of an education program on youth's level of awareness towards
household waste control.
Methodology: A Quazi-experimental study was conducted. Non-probability (quota sample) of (80) young
persons is selected from Baghdad Governorate. They are divided into two equal groups of (40) subjects for the
study group which is exposed to the household waste control educational program. The remaining is the
control group which is not exposed to the educational program.
Results: The findings of the study indicated that youth of the study group have got benefits from the
implementation of the educational program towards household waste control and change has occurred to
their awareness tow
Abstract
Objective(s): To evaluate high school male students' knowledge about substance use, to determine the effectiveness of the education program on high school mal students' knowledge about substance use.
Methodology: A quasi-experimental (pre-posttest) design was carried out to determine the effectiveness of an educational program on knowledge of high school students about substance use in AL-Kut city. The study was started from 20th h September 2022 to 24th November 2022. The sample was non-probability (purposive sample) sample of (60) student were selected according to the study that are working in Al Kut Education Directo
... Show MoreCoronavirus: (COVID-19) is a recently discovered viral disease caused by a new strain of coronavirus.
The majority of patients with corona-virus infections will have a mild-moderate respiratory disease that recovers without special care. Most often, the elderly, and others with chronic medical conditions such as asthma, coronary disease, respiratory illness, and malignancy are seriously ill.
COVID-19 is spread mostly by salivary droplets or nasal secretions when an infected person coughs or sneezes.
COVID-19 causes severe acute respiratory illness (SARS-COV-2). The first incidence was recorded in Wuhan, China, in 2019. Since then it spreads leading to a pandemic.
... Show MoreThe -multiple mixing ratios of γ-transitions from levels of populated in the are calculated in the present work by using the a2-ratio methods. We used the experimental coefficient (a2) for two γ-transitions from the same initial state, the statistical tensor, which is related to the a2-coefficient would be the same for the two transitions. This method was used in a previous work for pure transitions or which can be considered pure. In these cases the multiple mixing ratios for the second transition ( ) equal zero, but in our work we applied this method for mixed γ-transitions and then the multiple mixing ratio ( ) is known for one transition. Then we calculate the ( ) value and versareversa. The weight average of the -values calcu
... Show MoreBis-anthraquinones with a unique molecular backbone, (+)-2,2’-epicytoskyrin A (epi) and (+)-1,1′-bislunatin (bis), was produced by endophytic fungi Diaporthe sp GNBP-10 associated with Gambir plant (Uncaria gambier). Epi and bis possess robust antimicrobial activity toward various pathogens. This study focus on knowing the optimum condition of epi and bis production from Diaporthe sp GNBP-10. A series of culture media with various nutrient compositions was investigated in epi and bis production. The content of epi and bis was determined by measuring the area under the curve from TLC-densitometric (scanner) experiment. The linear regression analysis was then applied to obtain the results. The optimi
... Show Morelar water heating systems with heat pipes of three diameter groups of 16, 22 and 28.5 mm. The first and third groups had evaporator lengths of 1150, 1300 and 1550 mm. The second group had an additional length of 1800 mm. all heat pipes were of fixed condenser length of 200 mm. Ethanol at 50% fill charge ratio of the evaporator volume was used as the heat pipes working fluid. Each heat pipe condenser section was inserted in a storage tank and the evaporator section inserted into an evacuated glass tube of the Owens- Illinois type. The combined heat pipe and evacuated glass tube form an active solar collector of a unique design.
The resulting ten solar water heating systems were tested outdoors under the meteorological conditions of Bag
The present work concerns with simulating unsteady state equilibrium model for production of methyl oleate (biodiesel) from reaction of oleic acid with methanol using sulfuric acid as a catalyst in batch reactive distillation. MESHR equations of equilibrium model were solved using MATLAB (R2010a). The validity of simulation model was tested by comparing the simulation results with a data available in literature. UNIQUAC liquid phase activity coefficient model is the most appropriate model to describe the non-ideality of OLAC-MEOH-MEOL-H2O system. The chemical reactions rates results from EQ model indicating the rates are controlled by chemical kinetics. Several variables was studied such as molar ratio of methanol to oleic acid 4:1, 6:1
... Show MoreThe characteristic feature of a structure is that it accepts changes in form; this fact gives the structure features represented by the unity of its parts and wholeness. Accordingly, structure theorists consider the structure the major factor in composing the parts within the wholeness of the visual cognition according to a methodological adaptation of the creative processes in treating the elements of the logo, and this would make the logo have a visual identity that provides the recipient with a holistic description of the content of the materialistic representation. Additionally, the logo achieves identification between the concept and the reality at many times; therefore, it represents an entity that has characteristics and mean
... Show MoreFor modeling a photovoltaic module, it is necessary to calculate the basic parameters which control the current-voltage characteristic curves, that is not provided by the manufacturer. Generally, for mono crystalline silicon module, the shunt resistance is generally high, and it is neglected in this model. In this study, three methods are presented for four parameters model. Explicit simplified method based on an analytical solution, slope method based on manufacturer data, and iterative method based on a numerical resolution. The results obtained for these methods were compared with experimental measured data. The iterative method was more accurate than the other two methods but more complexity. The average deviation of
... Show MoreWater supply projects (WSP) requires high plan information, specialized capabilities, capable human resources, and high administrative capacity. However, in the developing countries, particularly in Iraq, these projects experience a lack of a large number of these necessities, which shows the need to identify the critical success factors (CSFs). Accordingly, the objectives of this research are to investigate the CSFs for WSP and their significance among the construction (public and private) and education sectors. To achieve this, first we have carried out a comprehensive literature review of the CSFs for WSP. Second, we administrated a questionnaire survey to 260 construction experts