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Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
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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.

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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Pharmaceutical Negative Results
The Effect of Ferric Citrate in Controlling Iron Deficiency Anemia and its Tolerability in a Sample of Iraqi Hemodialysis Patients: Randomized Controlled Clinical Trial
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Background: The iron deficiency anemia along with hyperphosphatemia are the main complications of dialysis patients. Traditional iron supplement has been failed to correct iron deficiency anemia, therefore, the current study aimed to investigate the efficacy and tolerability of new phosphate binder, ferric citrate, in a sample of Iraqi patients with end stage renal disease on maintenance hemodialysis. Method: Prospective, randomized, open label, active controlled trial was conducted in one center for dialysis in Babylon governance. Patients were randomized to receive ferric citrate with dose of 6 g/d and calcium carbonate with dose of 3 g/d for eight weeks. Hemoglobin concentration, mean corpuscular hemoglobin concentration and count o

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Publication Date
Mon Apr 01 2024
Journal Name
Medical Journal Of Babylon
Clinical Evaluation and Comparison between Effects of Rituximab and Prednisolone with Imuran to Neutrophils and Platelet Counts in Pemphigus Vulgaris Patients
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Background: Pemphigus vulgaris (PV) is an autoimmune vesiculobullous mucocutaneous disease with life-threatening consequences. Rituximab (RTX) has recently emerged as an effective treatment for PV. Objectives: This study aims to determine changes in neutrophil and platelet counts for PV patients treated with RTX or corticosteroids combined with Imuran (azathioprine). Materials and Methods: The present cross-sectional study was conducted in the Department of Dermatology at Baghdad Teaching Hospital, Baghdad, Iraq. Thirty PV patients received two types of treatment: 15 patients were administered RTX and 15 patients took corticosteroids with Imuran (azathioprine). Neutrophil and platelet counts were detected at the hospital laboratory. Results

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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Coronary Angiographic Findings in Diabetic Patients Versus non-Diabetics with Coronary Heart Disease
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Background :Atherosclerosis is the most
frequent underlying cause of ischemic heart
disease and a major cause of death all over the
world. This study was carried out to analyze and
compare the angiographic findings in patients
with diabetes mellitus versus non diabetics with
coronary heart disease , and to correlate these
findings with some risk factors for coronary
heart disease.
Methods: A total of 100 patients were studied,
50 with diabetes mellitus, and 50 non diabetics.
This study was carried out at Al-Sadr teaching
hospital in Basrah, Southern Iraq during the
period April 2009- September 2009. All patients
were known to have coronary heart disease. Risk
factors for coronary heart disease

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Publication Date
Tue Mar 28 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Neutrophil / Lymphocyte Ratio is not Correlated with Disease Activity in Rheumatoid Arthritis Patients
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Rheumatoid arthritis is a chronic systemic inflammatory disease. Inflammation leads to joint damage and increases the risk of cardiovascular diseases. Neutrophil lymphocyte ratio (NLR) is a measure of inflammation in many diseases. Therefore, we aimed to evaluate the usefulness of NLR to detect inflammation in RA, and its correlation to RA disease activity indices and some hematological parameters. A cross-sectional study involving 24 patients with active rheumatoid arthritis (RA) who are using MTX participated in this study. All patients were clinically evaluated using disease activity score of 28 joints (DAS28) and simplified disease activity index (SDAI), whereas functional disability was assessed by health assessment questionnaire di

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Publication Date
Sun Jan 01 2023
Journal Name
Iraqi Journal Of Biotechnology
Molecular Detection of Candida spp. Isolated from Female Patients Infected with COVID-19 in Baghdad City
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Abstract: Coronavirus disease 2019 (COVID-19) is an infectious disease with severe acute respiratory syndrome and first recognized in Wuhan, China, and it has since spread to the world, resulting in the coronavirus pandemic to 2020. The present study aimed to evaluate Molecular study of some types of vaginal fungi isolated from recovered women from Covid-19 in Baghdad governorate. The study was conducted on 213 samples collected between December 2021 and March 2022, where the number of positive samples reached 188 with percentage 88.26%, while the number of negative samples reached 25 with percentage 11.73% by taking vaginal swabs from various female patients in Al- Kadhimiya Teaching Hospital. Three of Candida spp. were isolated: Candida a

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Publication Date
Thu Mar 15 2018
Journal Name
Journal Of The College Of Education For Women
Metadiscourse Markers in Linguistic Abstracts by American and Iraqi Students of English
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Metadiscourse markers are means for organizing a writer’s information and create a connection with her/his readers. When students write, they usually focus on one type of these markers that is the interactive markers and belittling the use of the other type which is the interactional markers. That is to say, they emphasize on presenting and organizing their information only. Therefore, this study is conducted to bridge this gap. The researchers have selected 18 thesis abstracts. Nine of them are written by Iraqi students of English and the rest by American students. The aims of the study are to examine the types and sub-types of metadiscourse markers used by American and Iraqi students; investigate comparatively the impact of the metad

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Publication Date
Sun Mar 05 2017
Journal Name
Baghdad Science Journal
Detection of wheat damping off and root rot disease pathogenic fungi and it bio control by pseudomonas fluorescens
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This study was conducted to determine the fungal cause and bio control of damping off and root rot of wheat plants by using pseudomonas fluorescens under greenhouse and field conditions. Results showed isolation of eight species from the soil and roots to deferent region of Baghdad government. Rhizoctonia solani (Rs) and Fusarium solani (Fs) were the predominant damping off fungus with frequency 60 and 52% respectively. Led the using of bacteria formulations such as crud suspension , pure bacteria filtration and pure living cells in culture medium inhibit all type fungi with rates ranging from 84-96% , 80- 93% and 75-88% respectively. Rs and Fs were more pathogenesis under greenhouse conditions, with incidence of 80 and 68% and disease s

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Publication Date
Sun Feb 10 2019
Journal Name
Journal Of The College Of Education For Women
Renewable energy (solar energy) and its potential for electricity generation in Iraq
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The world's renewable energy sources have taken on great importance, for its cleanness and its environmental effects as well as being a renewable source, Increased demand for fossil energy sources is also causing global warming and climate change. Iraq is an appropriate area for renewable energy This study shows that renewable alternative energy has not been used sufficiently enough at present. But this energy can play an important role in the future of renewable energy in Iraq. This research aims to study the renewable energy in Iraq (solar energy) and it is appropriate to develop this alternative energy for crude oil, which is characterized by the use of the most appropriate and less economical and more environmentally friendly. Solar

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Publication Date
Sun Feb 25 2024
Journal Name
Baghdad Science Journal
Early Diagnose Alzheimer's Disease by Convolution Neural Network-based Histogram Features Extracting and Canny Edge
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Alzheimer's disease (AD) increasingly affects the elderly and is a major killer of those 65 and over. Different deep-learning methods are used for automatic diagnosis, yet they have some limitations. Deep Learning is one of the modern methods that were used to detect and classify a medical image because of the ability of deep Learning to extract the features of images automatically. However, there are still limitations to using deep learning to accurately classify medical images because extracting the fine edges of medical images is sometimes considered difficult, and some distortion in the images. Therefore, this research aims to develop A Computer-Aided Brain Diagnosis (CABD) system that can tell if a brain scan exhibits indications of

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Publication Date
Thu Nov 08 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Patients' awareness about Cardiovascular Disease and the Causes of Coronary Artery Disease
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Objective: This study aims to assess the awareness of patients suffering from cardiovascular
diseases.
Methodology: A descriptive design was applied in this study. A purposive sample consisted of
(100) patients with cardiovascular disease in the Mosul's hospitals were interviewed to achieve study
objectives. A questionnaire was used for data collection after tested for validity and reliability by pilot
study.
Results: The study results showed the mean of patients awareness are (1.78) cut point of (3) and
the majority of patients84% were aged more than 50 years or above. Slightly increase proportion of
male more than females. Most of them are married81%, retired, smokers, and a period of developing
the disease a

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