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.
Filled the place thought philosophers and ancient is the identity that you know The value of belonging to a World Geography existential - the spiritual , and Which is characterized by the structure humanity from one another and the Rest of the organisms they interact with him alone by environmental Conditions - surrounding has to achieve time through continuous movement Localized or comprehensive . The place is exemplified by making special Natural Great Creator, I believe making structure humanity combined - Individual interactive because of its influential role in all daily consumer Productions and creative arts, specifically drama's TV , because the place in Aesthetic discourse - TV drama directly affect the creating and building the
... Show MoreOver the years, the field of Medical Imagology has gained considerable importance. The number of neuroimaging studies conducted using functional magnetic resonance imaging (fMRI) has been exploding in recent years. fMRI survey gives to rise to large amounts of noisy data with a complex spatiotemporal correlation structure. Statistics play great role in clarifying the features of the data and gain results that can be used and explain by neuroscientists. Several types of artifacts can happen through a functional magnetic resonance imaging (fMRI) scanner Because of software or hardware problems, physical limitation or human physiologic phenomenon. Several of them can negatively affect di
This paper has dealing with experimentally works which includes properties of materials and testing program. The testing program includes rotine characterization tests, chemical, and physical tests for samples of gypseous soil. Samples of disturbed and undisturbed soil was obtained of seven different locations of Salah-Aldeen province. The unified classification system was adopted of study region. Except sample 7, soil categorization (as poorly graded sand) was a good graded sand soil. Samples had non plasticity rate (NP). The results of laboratory tests (by using Arc-Map GIS program) were enhanced by spatial interpolation mapping utilizing Inverse Distance Weighted Scheme.
This study investigates the phonotactics of English obstruent clusters in the word-final position from a markedness theory perspective among Iraqi EFL College Students whose native language, Arabic, prefers only two-member word-final obstruent cluster as a maximum. The markedness of clusters is measured depending on Iraqi EFL College Students’ utilization of the simplification strategies. This study tries to answer whether or not word-final obstruent clusters are marked or unmarked for Iraqi EFL College Students, and whether or not the markedness of the obstruent cluster increases as to its length. In order to answer these questions, a test has been distributed among 60 Iraqi EFL Fourth-Year College students, Department of English, Colleg
... Show MoreThis study aimed to isolate and identifye the growth of microorganisms and
their effect on pickled cucumber and cabbage, the study also investigated the effect of
garlic (in the form of segments, chopped or crushed) on the mentioned pickled –food
features . Furthermore, a sense based comparison is made between vinegar-preserved
samples and vinegar-garlic preserved ones.
The following results have been obtained:
1- The isolation of staph. aureus alone from the samples and the study of its physical
and biochemical features.
2- The fresh garlic (segments, chopped and crushed) with concentration of 5%, 7.5%,
and 10% showed a damaging percentage of 100% to bacterial growth of staph. Aureus
after 24 hours of inc
Sustainable plant protection and the economy of plant crops worldwide depend heavily on the health of agriculture. In the modern world, one of the main factors influencing economic growth is the quality of agricultural produce. The need for future crop protection and production is growing as disease-affected plants have caused considerable agricultural losses in several crop categories. The crop yield must be increased while preserving food quality and security and having the most negligible negative environmental impact. To overcome these obstacles, early discovery of satisfactory plants is critical. The use of Advances in Intelligent Systems and information computer science effectively helps find more efficient and low-cost solutions. Thi
... Show MoreThis research began by explaining its variables and dimensions especially the digital gap, which the authors explained it elaborately beginning with the concept, the reasons blind its emergence of its measurement, and how to treat it. The authors supposed the potentiality of relying on enforcing knowledge in general and the groups suffer from this gap in particular, especially the targeted knowledge to treat its subject.
As enforcing knowledge usually depends on some strategies or choices of organizational orientation among them is learning and training from one side, and communication, as an indicating factor for organizational effectiveness as the authors refer from the other side.
Background: The liver is one of the most common organs
injured after blunt abdominal trauma. The control of severe
hemorrhage remains a problem.
Methods: One-hundred thirty-eight patients diagnosed as
liver injury between 09/2003 and 08/2006 had been evaluated
prospectively in Al- Kindy Teaching Hospital.
A distinction was made between hemodynamically stable and
unstable patients. Different modalities of surgical procedures
were done concentrating on perihepatic gauze packing.
Results: (60 out of 138) patients included in the study were
clinically evaluated as hemodynamically stable. The average
abbreviated injury severity score (ISS) was 25. Twenty
patients underwent abdominal surgery. In 12 of them