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.
In this research study the synodic month for the moon and their
relationship with the mean anomaly for the moon orbit and date A.D
and for long periods of time (100 years), we was design a computer
program that calculates the period of synodic months, and the
coordinates of the moon at the moment of the new moon with high
accuracy. During the 100 year, there are 1236 period of synodic
months.
We found that the when New Moon occurs near perigee (mean
anomaly = 0°), the length of the synodic month at a minimum.
Similarly, when New Moon occurs near apogee (mean anomaly =
180°), the length of the synodic month reaches a maximum. The
shortest synodic month on 2053 /1/ 16 and lasted (29.27436) days.
The lo
An optical video communication system is designed and constructed using pulse frequency modulation (PFM) technique. In this work PFM pulses are generated at the transmitter using voltage control oscillator (VCO) of width 50 ns for each pulse. Double frequency, equal width and narrow pulses are produced in the receiver be for demodulation. The use of the frequency doubling technique in such a system results in a narrow transmission bandwidth (25 ns) and high receiver sensitivity.
The main objective of this paper is to find the order and its exponent, the general form of all conjugacy classes, Artin characters table and Artin exponent for the group of lower unitriangular matrices L(3,? p ), where p is prime number.
Objective: study aims to identify the diabetes type2 clients self management skills toward dietary pattern
, and find out the relationship between variables which are (Age, gender, educational level, duration of DM
diagnosis, and monthly income) with diabetes type 2 clients self management skills toward dietary pattern
Methodology: descriptive study was carried out through the present investigation from January 2nd
2011to September 2nd 2011 in order to achieve the objectives of the present study. A non probability
(purposive) sample, (200) cases which consists of clients who were attending Al-Nasiriyha diabetic center.
Including (118) males and (82) females. The data were collected by utilization of the study instrument
Increasing hydrocarbon recovery from tight reservoirs is an essential goal of oil industry in the recent years. Building real dynamic simulation models and selecting and designing suitable development strategies for such reservoirs need basically to construct accurate structural static model construction. The uncertainties in building 3-D reservoir models are a real challenge for such micro to nano pore scale structure. Based on data from 24 wells distributed throughout the Sadi tight formation. An application of building a 3-D static model for a tight limestone oil reservoir in Iraq is presented in this study. The most common uncertainties confronted while building the model were illustrated. Such as accurate estimations of cut-off permeab
... Show MoreOver the last few decades, many instructors have been trying all kinds of teaching methods, but without benefit. Nevertheless, in the 1986, a new technique is appeared which called K-W-L technique, it is specified for reading comprehension passages because reading skill is not easy matter for students for specific purposes (ESP).therefore, the K-W-L technique is a good one for thinking and experiences. To fulfill the aims and verify the hypothesis which reads as follows" it is hypothesized that there are no significant differences between the achievements of students who are taught according to K-W-L technique and those who are taught according to the traditional method
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