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Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
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Abstract<p>Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.</p>
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Publication Date
Mon May 26 2025
Journal Name
Middle East Journal Of Digestive Diseases (mejdd)
Investigating the Role of sHLA-G in the Immunopathogenesis and predicting Gastroesophageal Reflux Disease
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Background : Gastroesophageal reflux disease (GERD) is one of chronic gastrointestinal diseases in which patient may be asymptomatic or was complained from heartburn and regurgitation or pulmonary symptoms. Aim of the study : Examine the serum level of sHLA-G in GERD patients and can be used as a biomarker for early detection of GERD disease. Materials and methods : The design of the study was a case- control prospective enrolled forty patients consulted Gastroenterology Unit- Al-Kindy Teaching Hospital, were diagnosed as GERD by their physician, and compared to second forty control healthy group form January-2023 to May-2024. Serum used for quantitative assessment of soluble HLA-G (sHLA-G) using a sandwich enzyme-linked immunosorbent a

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Publication Date
Sat Mar 04 2017
Journal Name
Baghdad Science Journal
Measurement and purification of Alanine aminotransferase (ALT) enzyme activity in patients with celiac disease
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Celiac disease (CD) is the most common genetically - based disease in correlation with food intolerance. The aim of this study is to measure the activity of ALT enzyme and purify enzyme from sera women with celiac disease. Alanine aminotransferase (ALT) activity has been assayed in (30) women serum samples with celiac disease, age range between (20-40) year and (30) serum of healthy women as control group, age range between (22-38) year. In the present study, the mean value of ALT activity was significantly higher in patients with celiac disease than healthy group (p<0.01). The ALT enzyme was partial purified from sera women with celiac disease by dialysis, gel filtration using Sephadex G- 50 and ion exchange chromatography using DEAE- cell

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Publication Date
Sun Sep 03 2017
Journal Name
Baghdad Science Journal
Measurement and purification of Alanine aminotransferase (ALT) enzyme activity in patients with celiac disease
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Celiac disease (CD) is the most common genetically - based disease in correlation with food intolerance. The aim of this study is to measure the activity of ALT enzyme and purify enzyme from sera women with celiac disease. Alanine aminotransferase (ALT) activity has been assayed in (30) women serum samples with celiac disease, age range between (20-40) year and (30) serum of healthy women as control group, age range between (22-38) year. In the present study, the mean value of ALT activity was significantly higher in patients with celiac disease than healthy group (p<0.01). The ALT enzyme was partial purified from sera women with celiac disease by dialysis, gel filtration using Sephadex G- 50 and ion exchange chr

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Publication Date
Mon Sep 03 2018
Journal Name
Al-academy
Simplicity and complexity in the visual layout of the designs Children magazine covers
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The magazine covers the subjects of (simplicity and complexity in the visual layout of the designs of magazine coverings of children) Chapter I The problem and importance of the goal and limits of research and addition to Terminology. In the second chapter the theoretical framework in which the first topic the role of simplicity and complexity in the design and the second section Visual design and design relations and the third research design in magazine covers and the third chapter includes the methodology of research and analysis and the results and conclusions and sources and the most important result of the research is (simplicity and complexity of design, Continuity and vitality and attract the attention of the receiver through the

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research & Development
Body image and Physical Perception of children with Precocious Puberty in Baghdad city
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Publication Date
Mon Sep 01 2003
Journal Name
Iraqi Journal Of Tropical Disease Researches
The isolation and identification of some pathogenic bacteria from clinical cutaneous infection in human
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Publication Date
Sun Dec 09 2018
Journal Name
Baghdad Science Journal
Detection of Pseudomonas aeruginosa in Clinical Samples Using PCR Targeting ETA and gyrB Genes
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Pseudomonas aeruginosa has variety of virulence factors that contribute to its pathogenicity. Therefore, rapid detection with high accuracy and specificity is very important in the control of this pathogenic bacterium. To evaluate the accuracy and specificity of Polymerase Chain Reaction (PCR) assay, ETA and gyrB genes were targeted to detect pathogenic strains of P. aeruginosa. Seventy swab samples were taken from patients with infected wounds and burns in two hospitals in Erbil and Koya cities in Iraq. The isolates were traditionally identified using phenotypic methods, and DNA was extracted from the positive samples, to apply PCR using the species specific primers targeting ETA, the gene encoding for exotoxin A, and gyrB gene. The res

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Publication Date
Sat Dec 25 2021
Journal Name
Diyala Journal Of Medicine
Oxidative Stress in Multiple Sclerosis Disease (Review Article)
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Background: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system, in which the myelin sheaths got injured. The prevalence of MS is on grow, as well as, it affects the young ages. Females are most common to have MS compared to males. Oxidative stress is the situation of imbalance between oxidants (free radicals and reactive oxygen species (ROS)) and antioxidants in a living system, in which either the oxidants are elevated or antioxidants are reduced, or sometimes both. ROS and oxidative stress have been implicated in the progression of many degenerative diseases, which is important in cracking the unrevealed mysteries of MS. In this review article, some of the proposed mechanisms that link oxidative stres

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Publication Date
Sun Jun 03 2012
Journal Name
Baghdad Science Journal
Survey study on Cholera Disease in South Baghdad
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The study includes collection of data about cholera disease from six health centers from nine locations with 2500km2 and a population of 750000individual. The average of infection for six centers during the 2000-2003 was recorded. There were 3007 cases of diarrhea diagnosed as cholera caused by Vibrio cholerae. The percentage of male infection was 14. 7% while for female were 13. 2%. The percentage of infection for children (less than one year) was 6.1%, it while for the age (1-5 years) was 6.9%and for the ages more than 5 years was 14.5%.The total percentage of the patients stayed in hospital was 7.7%(4.2%for male and 3.4%for female). The bacteria was isolated and identified from 7cases in the Central Laboratory for Health in Baghdad. In

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Publication Date
Fri Jan 01 2010
Journal Name
Iraqi Journal Of Science
RETRIEVING DOCUMENT WITH COMPACT GENETIC ALGORITHM(CGA)
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