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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 Nov 01 2015
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
Clinical and biochemical evaluation of facial acanthosis nigricans
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KE Sharquie, AA Noaimi, HG Mahmood, SM Al-Ogaily, Journal of Cosmetics, Dermatological Sciences and Applications, 2015 - Cited by 6

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Publication Date
Wed Dec 04 2024
Journal Name
F1000research
Correlation between plasma homocysteine and ischemic heart disease in young Adults
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Background Cardiovascular disease (CVD) is a leading cause of death worldwide. Ischemic heart disease is a major cause of morbidity and mortality. Lack of blood supply to the brain can cause tissue death if any of the cerebral veins, carotid arteries, or vertebral arteries are blocked. An ischemic stroke describes this type of event. One of the byproducts of methionine metabolism, the demethylation of methionine, is homocysteine, an amino acid that contains sulfur. During myocardial ischemia, the plasma level of homocysteine (Hcy) increases and plays a role in many methylation processes. Hyperhomocysteinemia has only recently been recognized as a major contributor to the increased risk of cardiovascular disease (CVD) owing to its eff

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Publication Date
Fri Mar 12 2021
Journal Name
Medico Legal Update
Association between ABO Blood Group and Radiographic Findings in Periodontal Disease
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ZM Al-Bahrani, Medico Legal Update, 2021

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Publication Date
Thu Sep 01 2016
Journal Name
Current Pharmaceutical Design
Dry Eye Disease: Present Challenges in the Management and Future Trends
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Publication Date
Tue Oct 24 2017
Journal Name
International Journal Of Science And Research
Incidence Rate of Infectious Diseases in Hospitalized Children
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Objective: The incidence of infectious diseases among hospitalized children remains high. This study describes the environmental health indicator diseases and differences between gender and age of the affected children. Patients & Methods: A review of hospitalization and death causes among children admitted to the Child Teaching Hospital for Pediatrics in Baghdad, Iraq was performed. Medical records of children admitted throughout three years period were collected for demographics data and statistical analysis using Chi-square test. Results: A total of 4,272 admissions and 309 deaths were recorded. Infectious diseases remain the primary cause of hospitalization among children and frequently lead to death; which recorded (56%) followed by ac

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Publication Date
Mon Sep 28 2026
Journal Name
Al–bahith Al–a'alami
Cultural and educational values for children
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Programs directed to children through the media in general and in television in particular are among the main factors that help in forming the cultural and educational values of this important segment of society, and in light of this the study problem was identified in answering a major question: What are the cultural and educational values that Ajyal channel seeks Space planted in children through my program, Iftah Ya Simsim (in its new season) and Friends of Ajyal? , While the objectives of the study were evident in identifying the most prominent cultural and educational values that the Ajyal satellite channel worked to instill in children, and identifying the nature of the techniques used by Ajyal channel in providing the value conten

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Publication Date
Mon Mar 12 2012
Journal Name
Iraqi Journal Of Science(the 1 St Scientific Conference Of Biology Department College Of Science University Of Baghdad March 2012)
Rotavirus Infection in Infants and Young Children with Acute Gastroenteritis in Baghdad.
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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Clinical Evaluation of Melatonin Alone and in Combination with Pizotifen in the Prophylaxis of Migraine
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The treatment of migraine headache targets the neurovascular mechanism and involves the use of serotonin receptor antagonists. Some of these drugs are used for the treatment of acute attacks; while others are effective as prophylactic measures to decrease the duration and frequency of attacks. Pizotifen, a 5-HTA antagonist, is one of the prophylactic drugs for which the clinical use resulted in low outcomes in reducing migraine symptoms. Melatonin, a serotonin derived neurohormone, was reported to exert many functions like sleep induction, anti-inflammatory, neurovascular regulation, cytoprotection and modulation of neurotransmitter release.  In the view of the involvement of serotonin in the pathophysiology of migraine a

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Publication Date
Mon Jan 21 2019
Journal Name
International Journal Of Pharmaceutical Quality Assurance
Genetic Assessment of Antibiotic Resistance in Salmonella Enteric a Serovar Typhi in Kirkuk Province
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Around fifty isolates of Salmonella enterica serovar Typhi were isolated from blood specimens of patients referring to several hospitals in Kirkuk province, Iraq. The results revealed that all isolates developed resistance to trimethoprim-sulfamethoxazole and chloramphenicol. However, neither sul2 nor tem genes were detected. Moreover, only ten isolates were positive for catP. Our data suggested participation of other genes or mechanisms allow these multidrug isolates to resist the antibiotics in question.

Publication Date
Sat Dec 31 2022
Journal Name
Al-kindy College Medical Journal
Molecular Microbiology in Clinical Practice: Current and Future Applications: Molecular Microbiology
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Technological advances have yielded new molecular biology-based methods for the diagnosis of infectious diseases.  The newest and most powerful molecular diagnostic tests are available at regional and national reference laboratories, as well as at specialized centers that are certified to conduct metagenomic testing.  Metagenomic assays utilize advances in DNA extraction technology, DNA sequence library construction, high throughput DNA sequencing and automated data analysis to identify millions of individual strands of DNA extracted from clinical samples.  At present, metagenomic assays are only possible at a small number of special research, academic and commercial laboratories.  Continued research in human and path

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