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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
Mon Jan 16 2023
Journal Name
Iraqi National Journal Of Nursing Specialties
Evaluation Nurses Practice about Care of Children with Febrile Convulsion
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Abstract

Objective(s): To evaluate the nurses` practices for children who diagnosed with febrile convulsion.

Methodology: A quantitative research, descriptive correlational design was used in this study, the study conducted on nurses who work in Al-Diwaniya Pediatrics Teaching Hospital-Iraq for Maternal and Children period from 12th September 2021 to 10th October 2022. A non- probability (convenience) sample has been applied to obtain the study goals. The study sample was (21) nurses who participate in the study. The study tool is composed of two parts: The first part is concerned with collection of nurses socio-demographic data obta

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Publication Date
Fri Aug 21 2026
Journal Name
International Journal Of Nutrology
Metabolomics unleashed: transforming disease diagnosis and treatment with molecular insights
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Introduction: Metabolism is a vital technique in the field of medical research. It offers an insight into the etiopathogenesis of diseases and the formulation of personalized treatment regimens. Biochemical and metabolic alterations require innovative therapeutic approaches in polycystic ovarian syndrome (PCOS). Trace elements, like copper and zinc, may help treat PCOS due to their relation to metabolism. Objective: The aim of this work was to explore the metabolic impact of copper and zinc supplementation in women with PCOS using state-of-the-art metabolomics technologies. Methods: This study included fifty PCOS patients and fifty healthy subjects. High-resolution mass spectrometry (HRMS) and nuclear magnetic resonance

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Publication Date
Sat Feb 01 2020
Journal Name
Meta Gene
Waterpipe tobacco smoking and gene variants of CYP1A1-Ile462Val and -MspI polymorphisms are possibly associated with the risk of lung cancer in the Iraqi population
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Background: Previous studies about the correlation of genetic polymorphisms in the multigene family of cyto- chrome P450 (CYPs), the effect of tobacco smoking, and the risk of developing cancer have been well in- vestigated in different populations, but not in Iraq. Furthermore, the studies of malignance occurrence re- lationship with cigarette tobacco smoking revealed the presence of strong association, however, little is known about the risk of Waterpipe (WP) tobacco smoking. Thus, determination two important genetic polymorphisms in CYP1A1, a main member of CYPs, among Iraqi men was our first aim. This is the first study that highlights the correlation of CYP1A1 polymorphisms with the risk of lung cancer in Iraq. The second aim was to ev

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Publication Date
Tue May 11 2021
Journal Name
Research J. Pharm. And Tech
Association of Serum Renal Function Levels with Heart Failure Disease in Iraqi Patients
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Renal function tests are commonly used in clinical practice to look for renal disease, the most common includes the serum urea, uric acid and creatinine. Heart failure patients have a higher incidence of renal function test abnormalities than individuals who do not have heart failure disease. Fifty subjects of adults (male) were divided in to two groups, 25 subjects (healthy) as control (group1) and 25 subjects with heart failure (group 2). Our results indicate that serum uric acid, urea, and creatinine values were significantly elevated (P≤0.05) in patients group (2) compared with healthy group (1). The results also showed, the effect of age categories on uric acid blood urea nitrogen and creatinine values (P≤0.05) and there were no si

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Publication Date
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
A Comparative Biochemical Study of Proteins Profile in Iraqi Children and Adolescent with ?-Thalassemia
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The aim of the present research is to study different protein fractions in sera of children and adolescent with  β –thalassemia major and minor and to compare the results with that of healthy control.One hundred fifty children and adolescents were enrolled in this study,including 50 patients with β- thalassemia major , 50 patients with  β- thalassemia minor as pathological control group and another apparently 50 healthy individuals as a control group. The age of all studied  groups ranged from (4-18)years.Total protein, albumin and immunoglobulins were estimated in sera of all subjects.  A Significant  decrease  was  found  in  the  total  protein and  albumin&nb

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Publication Date
Sat Jan 01 2022
Journal Name
Aip Conference Proceedings
Rapid and accurate molecular detection of adenovirus associated with gastroenteritis children in Baghdad city
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Publication Date
Wed Jul 05 2017
Journal Name
Chemical Engineering Communications
Microwave-assisted preparation of mesoporous-activated carbon from coconut (<i>Cocos nucifera</i>) leaf by H<sub>3</sub>PO<sub>4</sub>activation for methylene blue adsorption
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Publication Date
Sun Jan 30 2022
Journal Name
Iraqi Journal Of Science
Haematological and Demographic Study in Children Infected with Enterobiasis in Al Diwaniyah Province, Iraq
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     Enterobius vermicularis infection is considered as one of the important causes of anaemia and malnutrition among children. This topic has recently received an increased amount of attention.  The objective of this study is to evaluate the demographical, anthropometrical, nutritional, and  haematological status of E. vermicularis infection among children. This study was conducted in Al Diwaniyah province, south of Iraq, for the period of October 2020 to the end of January 2021. The study included 122 children from both genders (males, n= 61, and females, n=61) and their ages ranged between 1 and 14 years. Nutritional status, body mass index (BMI), BMI percentile, and weight- for- age Z score were evaluated for some particip

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Publication Date
Fri Sep 14 2018
Journal Name
Radiation Effects & Defects In Solids
Effect of gamma and beta radiation on I–V characterization of the solar cell panel
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Optoelectronic devices, widely used in high energy and nuclear physics applications, suffer severe radiation damage that leads to degradations in its efficiency. In this paper, the influence of gamma radiation (137Ce source) and beta radiation (90Sr source) on the photoelectric parameters of the Si solar cell, based on the I–V characterization at different irradiation exposer, has been studied. The penetrating radiation produces defects in the base material, may be activated during its lifetime, becoming traps for electron–hole pairs produced optically and, this will, decrease the efficiency of the solar cell. The main objective of the paper is to study and measure changes in the I–V characteristics of solar cells, such as efficienc

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Publication Date
Wed Aug 07 2019
Journal Name
Iraqi National Journal Of Nursing Specialties
Body satisfaction and Depression Symptoms among Children with Precocious Puberty in Baghdad City
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Objective: to evaluate body image and depression symptoms of children with precocious puberty, and find out association between children`s sociodemographic characteristics and their body image and depression signs. Methodology: A cross sectional study, sample of (80) child from both gender, > 7 years were included due to their ability to express their own feeling, diagnosed with precocious puberty, attending out-patient endocrine clinics at pediatric hospitals in Baghdad city. Data collected, during the period from May to November 2018. Consent form has taken from children and their guardians to participate in study. Child body image scale (CBIS) was used to evaluate children body satisfaction (1) and Mood and feeling questionnaire (M

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