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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
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
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
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
Thu Feb 19 2026
Journal Name
International Journal Of Surgery Open
Secondary trigeminal neuralgia: an in-depth review of etiopathology, clinical manifestations, and management approaches
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Secondary trigeminal neuralgia (STN) results from an identifiable underlying pathology, including tumor compression, multiple sclerosis, arteriovenous malformations, hypertension, structural lesions, inflammation, trauma, or familial genetic conditions. This study, through a comprehensive review of the literature in PubMed, Google Scholar, Web of Science, and the Cochrane Library, explores the multifaceted aspects of STN. This study delves into the diverse etiological factors, focusing on the pathophysiological mechanisms that lead to trigeminal nerve dysfunction. The clinical manifestations of STN often overlap with those of primary trigeminal neuralgia, creating diagnostic challenges and necessitating a thorough evaluation that in

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Publication Date
Mon Jan 01 2024
Journal Name
Global Heart
Challenges in Clinical Research in Low and Middle Income Countries: Early Career Cardiologists’ Perspective
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Publication Date
Mon Jun 26 2023
Journal Name
International Conference On Scientific Research &amp; Innovation (icsri 2022)
Age and gender profile of coronavirus disease 2019 (COVID 19) in Quarantine Center in Baghdad, Iraq
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Publication Date
Mon Jun 26 2023
Journal Name
International Conference On Scientific Research &amp; Innovation (icsri 2022)
Age and gender profile of coronavirus disease 2019 (COVID 19) in Quarantine Center in Baghdad, Iraq
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Publication Date
Thu Jan 01 2015
Journal Name
Iraqi Journal Of Biotechnology
Detection of E. coli and rotavirus in diarrhea among children under five years old‏
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Publication Date
Sun Oct 18 2020
Journal Name
Al-kindy College Medical Journal
Management of COVID-19 in Children and Adolescents -A Practical Up-to Date Guideline
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Sufficient high-quality data are unavailable to describe the management approach and guideline of COVID-19 disease in pediatric and adolescent population which may be due to mild presentation in most of cases and less severe complications than older ages.

World Health Organization was concerned with the establishment of an approved guideline to manage the increasing number of COVID-19 patients worldwide aiming to prevent or lessen COVID-19 global burden.

The clinical features have a wide spectrum starting from uncomplicated mild illness, mild-moderate pneumonia, severe pneumonia, acute respiratory distress syndrome, sepsis, septic shock, and multisystem inflammatory syndrome in children.

Many important definitions

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