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Spectrum and classification of<i>ATP7B</i>variants with clinical correlation in children with Wilson disease
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Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.

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Publication Date
Wed Aug 01 2018
Journal Name
Collegian
Behaviour change interventions to improve medication adherence in patients with cardiac disease: Protocol for a mixed methods study including a pilot randomised controlled trial
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Publication Date
Sun Aug 07 2022
Journal Name
Hiv Nursing
Assessment of ApoE Gene Variants and Apob-100 R3500q Mutation as Genetic Risks for Dyslipidemia: A Case-Control Study
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Background: Dyslipidemia is defined as an abnormally high level of various lipids in the blood. It is considered a major risk for atherosclerosis and coronary artery disease. Genetic susceptibility can have a significant influence on the development and progression of dyslipidemia. ApoB-100 R3500Q mutation and ApoE variants are among those genetic risks for dyslipidemia. This study aims to assess the possible contribution of ApoB and ApoE variants on lipid profile among a group of early-onset ischemic heart disease (IHD) patients in comparison to a group of controls. Methods: Forty patients with dyslipidemia and early-onset IHD without chronic conditions likely to cause derangement of lipid levels were recruited to this case-control study

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Publication Date
Tue Jan 16 2018
Journal Name
International Journal Of Science And Research
Some Biochemical Assays in Hemodialysis Patients with Chronic Hepatitis C
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Abstract: The present study aimed to evaluate calcium, potassium, albumin, protein, creatinine, urea, uric acid levels, and the level of total sialic acid in the sera of patients with chronic renal failure who had been infected with Hepatitis C virus and in the sera of patients with chronic renal failure, and compare them with healthy volunteers. A total of 90 subjects with age 25-55 years, were divided into three groups. G1 represents 30 patients with chronic renal failure who had treated by dialysis and infected with chronic Hepatitis C virus (positive group). G2 represents 30 patients with chronic failure who had been treated by dialysis (negative group), while G3 represents 30 healthy volunteers (control group). The results showed

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Publication Date
Sat Jan 01 2011
Journal Name
Iraqi Journal Of Physics
Radiation contrast improvement by suitable choice of x-ray radiation spectrum
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Different bremsstrahlung spectra from tungsten anode x-ray tube generated at 30, 40 and 50 kV have been examined theoretically and experimentally for an attempt to find a most suitable spectrum to radiograph a test object of 0.01 cm thickness of Cu and Ag. The high contrast using this suitable spectrum is demonstrated and the possible effects of fluorescent radiation are discussed.

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Publication Date
Tue Nov 03 2020
Journal Name
Iium Medical Journal Malaysia
Role of the Immunohistochemical Marker (Ki67) in Diagnosis and Classification of Hydatidiform Mole
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Introduction: Since the hallmark of gestational trophoblastic disease is trophoblastic proliferation, Ki67 is regarded as the best marker in studying hydatidiform mole.This study was conducted to evaluate the role of this proliferative marker in distinguishing among hydropic abortion, partial and complete hydatidiform mole. Materials and methods: This is a cross sectional study involving the application of Ki67 on a total of 90 histological samples of curetting materials from molar (partial and complete mole) and non molar hydropic abortion belong to Iraqi females, so three study groups were created. Immunohistochemical expression in villous cytotrophoblasts, syncytiotrophoblasts and stromal cells were recorded separately by three i

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Publication Date
Wed Apr 05 2023
Journal Name
Journal Of Agriculture And Crops
Distribution and Classification of Medicinal Plants in Zakhikhah Area of Al-Anbar Desert
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This study included the Zakhikhah area in the Al- Anbar desert, which it bounded on the north, east, and west by the Euphrates River and on the south by the Ramadi-Qaim road. Several exploratory field trips were taken to the study area. During this time, a semi-detailed area survey was carried out based on satellite imagery captured by American Land sat-7, topographic maps, and natural vegetation variance. All necessary field tools, including a digital camera and GPS device, were brought to determine the soil type and collect plant samples. All of these visits are planned to cover the entire state of Zakhikhah. All vegetation cover observations, identifying sampling sites and attempting to inventory and collect medicinal plants in t

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Publication Date
Sun Jun 05 2011
Journal Name
Baghdad Science Journal
Reaction of Thiols with formaldehyde in Presnce of succinimid and Reduction of Phenyl Tetrazole Derivative with Hydrogen and Borohydraide
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One of most the important compounds which have active hydrogen (substrate) is the thiols which used in a wide field in preparation of Mannich bases . A large number of Mannich bases have been prepared as a biologically active compound (pharmaceutical, pesticides, bactericidal, fungicidal and tuberculostatic) and in order to correlate their structure and reactivity with their pharmacological activity such as . It has been reported that the reaction is easily proceeded by using primary and secondary amine beside formaldehyde. But when we tried the reaction of thiols as substrate and formaldehyde and succinimide instead of amine, the reaction did not proceed to give Mannich base but product were methylenene – bis – sulfide . Mann

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Publication Date
Sat Sep 21 2019
Journal Name
Journal Of The College Of Education For Women
Reading Readiness Skills in Preschool Children
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This research aims to identify the following :

  • The reading willingness skill to kindergarten children.
  • There is no statistical significance difference between average scores of reading willingness skill of the sample individuals as a whole, and the hypothetical average of the scale.
  • The difference in reading willingness skill to kindergarten children according to gender variable (male & female).
  • There is no statistical significance difference between average scores of reading willingness skill for kindergarten children according to gender variable (male & female).

   To achieve the research goals, the researc

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Publication Date
Thu May 05 2022
Journal Name
Al-kindy College Medical Journal
Spinal Tuberculosis in Children
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Tuberculosis continues to be the leading cause of morbidity and mortality, with an estimated annual incidence of 10.4 million worldwide. It has been estimated that 10% of patients with extrapulmonary tuberculosis have musculoskeletal involvement, with the spine being the most common. Spinal tuberculosis (TB) accounts for 50% of cases of musculoskeletal tuberculosis.

Spinal tuberculosis is the result of infection with Mycobacterium tuberculosis. It is a secondary infection, the primary lesion of which is in the lungs, genitourinary system, or gastrointestinal tract and can be active or latent. Involvement of the vertebral segment is the result of hematogenous spread of infection along the arterial pathway or Batson's vei

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Publication Date
Thu Jun 30 2016
Journal Name
Al-kindy College Medical Journal
Obesity and its co morbidities in children and adolescents
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Background: Obesity has become one of the most important public heath problems all over the world.An epidemic of obesity is affecting children and adolescents across the developed and developing countries in recent years. As the prevalence of obesity increased, so did the prevalence of co morbidities like metabolic and endocrine diseases.Objectives: To overview obesity clinical features and the prevalence of associated co morbidities in children and adolescents attended the obesity researches and therapy center in Alkindy medical collage.Type of study: This is a cohort observational studyMethods : Obese child and adolescents aged 4-15year attended the obesity research and therapy unit in AL Kindy medical collage from the 1st of September

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