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.
Background: Restoration of root canal treated teeth with a permanent restoration affect in the success of endodontically treated teeth. This in vitro study was performed to evaluate and compare the fracture strength of endodontically treated teeth restored by using custom made zirconium posts and cores, prefabricated carbon fiber, glass fiber and zirconium ceramic posts. Materials and method: Forty intact human mandibular second premolars were collected for this study and were divided into five groups. Each group contains 8 specimens: Group1: Teeth restored with Carbon Fiber Posts; Group2: Teeth restored with Glass Fiber Posts; Group3: Teeth restored with Zirconium Ceramic prefabricated Posts; Group4: Teeth restored with Zirconium Posts
... Show MoreAbstract Objective: Comparison of femtosecond small incision lenticule extraction (FS-SMILE) versus Femtosecond laser Insitu keratomileusis (FS-LASIK) regarding dry eye disease (DED) and corneal sensitivity (CS) after those refractive surgeries. Methods: A comparative prospective study conducted for a period of 2 years; from March 2017 until February, 2019. Enrolled patients were diagnosed with myopia. Fifty patients (100 eyes) were scheduled for bilateral FS-SMILE and the other 50 patients (100 eyes) had been scheduled for bilateral FS-LASIK. Both groups were followed for six months after surgery. The age, gender, and preoperative refraction for both groups were matched. Complete evaluation of dry eye disease had been
... Show MoreAbstract Objective: Comparison of femtosecond small incision lenticule extraction (FS-SMILE) versus Femtosecond laser Insitu keratomileusis (FS-LASIK) regarding dry eye disease (DED) and corneal sensitivity (CS) after those refractive surgeries. Methods: A comparative prospective study conducted for a period of 2 years; from March 2017 until February, 2019. Enrolled patients were diagnosed with myopia. Fifty patients (100 eyes) were scheduled for bilateral FS-SMILE and the other 50 patients (100 eyes) had been scheduled for bilateral FS-LASIK. Both groups were followed for six months after surgery. The age, gender, and preoperative refraction for both groups were matched. Complete evaluation of dry eye disease had been
... Show Moreان من اهم القضايا التي تثيرها المعرفة البشرية في تجلياتها، وتعبيراتها المفاهيمية، تكمن في مدى تأصلها وانتمائها الى البنى والتشكيلات الموضوعية (في مستوياتها التاريخية) التي تسعى لتفسيرها وادراكها ومضاهاتها. فالينبوع الذي يغرف منه الفكر مادته هو الكيان الاجتماعي المتموضع خارج الوعي والايدولوجيا.
ان قدرة الوعي على ادراك الواقع الموضوعي بخصائصه العامة يشكل الشرط الضروري لاكتساب الوعي ل
... Show MoreImage quality has been estimated and predicted using the signal to noise ratio (SNR). The purpose of this study is to investigate the relationships between body mass index (BMI) and SNR measurements in PET imaging using patient studies with liver cancer. Three groups of 59 patients (24 males and 35 females) were divided according to BMI. After intravenous injection of 0.1 mCi of 18F-FDG per kilogram of body weight, PET emission scans were acquired for (1, 1.5, and 3) min/bed position according to the weight of patient. Because liver is an organ of homogenous metabolism, five region of interest (ROI) were made at the same location, five successive slices of the PET/CT scans to determine the mean uptake (signal) values and its standard deviat
... Show MoreThis study expands the state of the art in studies that assess torsional retrofit of reinforced concrete (RC) multi-cell box girders with carbon fiber reinforced polymer (CFRP) strips. The torsional behavior of non-damaged and pre-damaged RC multi-cell box girder specimens externally retrofitted by CFRP strips was investigated through a series of laboratory experiments. It was found that retrofitting the pre-damaged specimens with CFRP strips increased the ultimate torsional capacity by more than 50% as compared to the un-damaged specimens subjected to equivalent retrofitting. This indicated that the retrofit has been less effective for the girder specimen that did not develop distortion beforehand as a result of pre-loading. From
... Show MoreThis study expands the state of the art in studies that assess torsional retrofit of reinforced concrete (RC) multi-cell box girders with carbon fiber reinforced polymer (CFRP) strips. The torsional behavior of non-damaged and pre-damaged RC multi-cell box girder specimens externally retrofitted by CFRP strips was investigated through a series of laboratory experiments. It was found that retrofitting the pre-damaged specimens with CFRP strips increased the ultimate torsional capacity by more than 50% as compared to the un-damaged specimens subjected to equivalent retrofitting. This indicated that the retrofit has been less effective for the girder specimen that did not develop distortion beforehand as a result of pre-loading. From
... Show MoreThrough the study of social work and social policy ( problems of marginalization and empowerment opportunities ) and taken a theoretically descriptive and analytical and highliyhed the role of social work in social policy its achieved only through community intraction and paamong all parties and according to social policies include of material resources and haman and integrated in to the planning and development framework with the aim of providing social services for allsegments of society and become the study in social work that include the introducation / and five chapters each chapter in cludes several detectives and each complements the other .
1 – The absence of social development projects on social policy .
2 – social pol
Aims Nurses are key members of the health care team, providing competent care for individuals, families, and communities in elective or emergent conditions. When nurses are involved in disaster management without proper preparation, their capacity to deliver care may be significantly compromised. However, assessment nurses’ perceptions of disaster preparedness and core competence are limited. The study assessed the nurses’ perception of disaster preparedness and core competence. And the association between sociodemographic characteristics and disaster preparedness and core competence. Instrument & Methods This cross-sectional study was conducted from February 22 to August 15, 2024, in four teaching hospitals (Baghdad Teaching Hospital,
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