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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 Aug 07 2022
Journal Name
Hiv Nursing
Assessment of ApoE Gene Variants and Apob-100 R3500q Mutation as Genetic Risks for Dyslipidemia: A Case-Control Study
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Background: Dyslipidemia is defined as an abnormally high level of various lipids in the blood. It is considered a major risk for atherosclerosis and coronary artery disease. Genetic susceptibility can have a significant influence on the development and progression of dyslipidemia. ApoB-100 R3500Q mutation and ApoE variants are among those genetic risks for dyslipidemia. This study aims to assess the possible contribution of ApoB and ApoE variants on lipid profile among a group of early-onset ischemic heart disease (IHD) patients in comparison to a group of controls. Methods: Forty patients with dyslipidemia and early-onset IHD without chronic conditions likely to cause derangement of lipid levels were recruited to this case-control study

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Publication Date
Wed Jan 01 2014
Journal Name
Scienceasia
A combined compact genetic algorithm and local search method for optimizing the ARMA(1,1) model of a likelihood estimator
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In this paper, a compact genetic algorithm (CGA) is enhanced by integrating its selection strategy with a steepest descent algorithm (SDA) as a local search method to give I-CGA-SDA. This system is an attempt to avoid the large CPU time and computational complexity of the standard genetic algorithm. Here, CGA dramatically reduces the number of bits required to store the population and has a faster convergence. Consequently, this integrated system is used to optimize the maximum likelihood function lnL(φ1, θ1) of the mixed model. Simulation results based on MSE were compared with those obtained from the SDA and showed that the hybrid genetic algorithm (HGA) and I-CGA-SDA can give a good estimator of (φ1, θ1) for the ARMA(1,1) model. Anot

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Publication Date
Mon Apr 01 2019
Journal Name
Journal Of Educational And Psychological Researches
Psychological and Health Risks of Children Toy-Related Injuries: Pellet-Gun as a Model
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The research aims to identify the psychological and health risks that a child might be exposed to by playing with hazardous toys such as pellet guns. To this end, the researcher has visited Ibn Al-Haytham Eye Hospital in Baghdad, the emergency department to figure out the rate of injuries in Children for the consecutive years (2017-2018) and the first Month of (2019). The psychological risks as a result of disability are represented by the inability to accommodate the surrounding environment well. Additionally, the child experiences a kind of tension, conflict, and going in psychological crises through introversion, isolation, withdrawal tendencies, and poor conformity with himself and the Society.

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Publication Date
Thu Apr 18 2019
Journal Name
Al-kindy College Medical Journal
Clinical and Refractive Outcomes of Toric Phakic Implantable Collamer lens Implantat for correction of myopic astigmatism
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Background: Currently there are four general approaches to correct refractive errors: refractive corneal surgery, crystalline lens surgery and implantation of an intraocular lens in anterior or posterior chamber.

Objective: To evaluate the predictability, safety and stability of toric phakic implantable collamer lens implantation to correct moderate to high myopic astigmatism. in  Eye Specialty Private Hospital, Baghdad, Iraq.

Type of the Study: a prospective non randomize intervention study.

Methods: 60 eyes of 40 patients underwent implantation of a toric implantable collamer lens (V4c design).Mean spherical refraction was ₋11.32 diopter

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Publication Date
Thu Dec 16 2021
Journal Name
Kufa Medical Journal
Clinical and Refractive Outcomes of Toric Phakic Implantable Collamer Lens Implantation for correction of myopic astigmatism
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Background: Currently there are four general approaches to correct refractive errors: refractive corneal surgery, crystalline lens surgery and implantation of an intraocular lens in anterior or posterior chamber. Aim: To evaluate the predictability, safety and stability of toric phakic implantable collamer lens implantation to correct moderate to high myopic astigmatism. Methods: Sixty eyes of 40 patients underwent implantation of a toric implantable collamer lens (V4c design) in the Eye Specialty Private Hospital, Baghdad, Iraq were studied. The mean spherical refraction was -11.32±3.17 diopter (D) with a range of -6.00 to -18.00 D and a mean cylinder of -2.61±1.16 with range of -1.00 to -5.50 D. The outcome measures that evaluat

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Publication Date
Wed Jan 01 2025
Journal Name
Acta Facultatis Medicae Naissensis
Rhabdomyosarcoma in children in the five-year period in Oncology Unit in a pediatric Teaching Hospital
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Introduction/Aim. Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in pediatric population and adolescents. Limited data is available on the characteristics of RMS in Iraqi pediatric patients. The aim of the study was to examine the clinical and histological aspects of RMS in Iraqi children, with a focus on their response to treatment, prognosis, and survival. Methods. A retrospective cohort study was conducted at the Oncology Unit of Children's Welfare Teaching Hospital, Medical City, Baghdad, Iraq and included patients who were newly diagnosed with RMS and received treatment during the period between January 1, 2015, and December 31, 2019. The patients were followed up from the time of diagnosis until October 1, 2020.

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Publication Date
Thu Mar 03 2022
Journal Name
Rawal Medical Journal
Functional outcome of closed reduction of supracondylar humerus fracture with cross Kirschner wire in children
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Objective: To evaluate the functional outcome of percutaneous cross two K wires fixation for Gartland types II and III fractures of humerus. Methodology: This prospective study included80 patients with supracondylar humeral fracture, who underwent closed reduction and fixation by two crossed Kirschner wires. We included children with age < 15 years with closed fractures with Gartland types II and III, while the patient with vascular injury, open, irreducible fractures were excluded. The patients were following up for 6 months and assessed functionally by Flynn’s criteria. Results: The mean age of patients was 8.1 years. Trauma while child playing was the main mechanism of injury in 43 (59.8%) children and 46 (57.5%) fractures were of the

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Publication Date
Sat Sep 05 2020
Journal Name
Al-kindy College Medical Journal
Prevalence of Oral Manifestations of Inflammatory Bowel Disease in Patients Admitted to Sulaymaniyah teaching hospital – Iraq
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The aim of this study is to evaluate the association between IBD and oral symptom and mucosal lesions in patients with Crohn’s disease and ulcerative colitis

Methods: This is a cross-sectional study that has been done in (Kurdistan center for Gastroenterology and hepatology) of Teaching Hospital in Sulaymaniyah-Iraq, which included 101 patients previously diagnosed with Inflammatory Bowel Disease who were interviewed regarding manifestations of inflammatory bowel disease especially oral manifestations. Required data were collected through a specially designed questionnaire,

Results: The patients’ mean age was 45.74±12.58 years. Patients with ulcerative colitis and Crohn’s disease w

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Publication Date
Sun Sep 06 2015
Journal Name
Baghdad Science Journal
Disorder Activity of Some Enzymes Plays an Important Role in Pathological Mechanism of Rheumatoid Arthritis Disease
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The aim of this research to show the role of some enzymes in pathological mechanism of rheumatoid arthritis (RA) disease. Sixty patients with RA and matched number of apparently healthy volunteers were included in the study. Spectrophotometric methods were used to determine Peroxy nitrite (ONOO), Nitric oxide (NO), Nitric oxide synthase activity (NOS) cycloxygenase-2 activity (COX-2), glutathione peroxidase (GPX) activity and superoxide dismutase (SOD) activity in serum of both groups. Colorimetric assay kits were used to determine Iron. Rheumatoid factor (RF) was determined using Imuno-Latex kit. ONOO, NO levels, and NOS activity were significantly higher in the patients compared to the control group. Conversely, Iron level, SOD

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Publication Date
Mon Jul 03 2017
Journal Name
University Of Sheffield
The interaction of Porphyromonas gingivalis with host epithelial cells and its relevance to periodontal disease
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Periodontitis is one of the most prevalent bacterial diseases affecting man with up to 90% of the global population affected. Its severe form can lead to the tooth loss in 10-15% of the population worldwide. The disease is caused by a dysbiosis of the local microbiota and one organism that contributes to this alteration in the bacterial population is Prophyromonas gingivalis. This organism possesses a range of virulence factors that appear to contribute to its growth and survival at a periodontal site amongst which is its ability to invade oral epithelial cells. Such an invasion strategy provides a means of evasion of host defence mechanisms, persistence at a site and the opportunity for dissemination to other sites in the mouth. However, p

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