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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
Sat Jan 01 2022
Journal Name
Journal Of Clinical And Experimental Dentistry
Prevalence of periapical lesions in non-endodontically and endodontically treated teeth in an urban Iraqi adult subpopulation: A retrospective CBCT analysis
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Publication Date
Tue Dec 11 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Effectiveness of University Leaders' Behavior and the Faculty Members' Motivation towards the Work in the Iraqi Colleges of Nursing
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Objective(s): The present study aims at identifying the Iraqi Colleges of Nursing Deans' leadership
behaviors effectiveness and faculty members' motivation towards work in these colleges.
Methodology: Descriptive design has been used for the sample survey manner, which is the
appropriate approach to the study of social phenomena in the field where provides data on the reality of
these phenomena and relations between the causes and consequences and an analysis of it and perhaps
the factors affecting it and how it appears. The study relies on a questionnaire to collect data from the
participants which is composed of (86) items distributed on three axes: First, the demographic
characteristics which are composed of (8) i

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Publication Date
Sun Dec 22 2019
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Assessment of Causality, Severity and Seriousness of Adverse Event Following Immunization in Iraq: A Retrospective Study Based on Iraqi
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Immunization is one of the most cost-effective and successful public health applications. The results of immunization are difficult to see as the incidence of disease occurrence is low while adverse effects following the immunization are noticeable, particularly if the vaccine was given to apparently healthy person. High safety expectations of population regarding the vaccines so they are more prone to hesitancy regarding presence of even small risk of adverse events which may lead to loss of pub

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Publication Date
Sat Apr 01 2017
Journal Name
Diyala Journal For Pure Science
Determination of IL-35, PTH, Ferritin and Other biochemical parameters in sera of Iraqi Men with chronic kidney failure.
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Chronic kidney Failure, a progressive disease, includes both medical and biochemical features that damage kidneys and decrease their abilities to work effectively, this disease is characterized by a chronic disorders to both the innate and adaptive immune systems, generate a complex and not fully understood immune dysfunction. In the present study, (30) men suffering from chronic kidney failure with age in range (40-55) year and (30) healthy men within the same range of age were enrolled in this study. The aim of this study is to highlight the role of immunological aspect (IL-35), hormonal aspects (PTH), some functional proteins and immunological electrolytes in sera of chronic kidney failure (CKF) patients. Biochemical parameters were dete

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Publication Date
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
High Tumor Levels of Ki-67, VEGF and Endostatin Are Associated with Progression of Breast Cancer in Iraqi Women
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Publication Date
Sun Jun 29 2025
Journal Name
Journal Of Physical Education
Analytical study of Spiking and Its relation With Tactical Performance of Blockers in Iraqi Volleyball Primer League (2020 – 2021)
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Publication Date
Sat Jun 25 2022
Journal Name
International Journal Of Drug Delivery Technology
Histopathological and Immunohistochemical Study of Aflatoxin B1 in Freshly Slaughtered Iraqi Sheep Meat, using CD Marker of TNF-α
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The current study was conducted in Baghdad governorate (Karkh and Al-Rasafa regions) which included collecting 50 samples of freshly slaughtered sheep meat randomly collected from local slaughter areas and approved governmental slaughterhouses (25 liver and 25 ulna muscles). The results of the aflatoxin B1 detection showed that all samples were contaminated with this toxin at different concentrations ranging from 25–422 ppb and 65–492 ppb for each ulna muscles and liver, respectively. The histopathological and immunological study was conducted in meat samples containing higher and lower concentrations of the toxin. The results of the pathological study in the liver revealed that the concentration (492 ppb) caused thickening of t

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Publication Date
Mon Feb 01 2021
Journal Name
Meta Gene
Evaluation of interleukin-9 serum level and gene polymorphism in a sample of Iraqi type 2 diabetic mellitus patients
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Background: Diabetic mellitus (DM) is a collection of metabolic disorder identified by hyperglycemia. The heterogeneous etiology includes defects either in insulin secretion, or in insulin action, or the both. In addition to the distraction in carbohydrate, fat and protein metabolism. Inflammatory reaction that caused by many pro-inflammatory cytokines play a central role in the pathogenicity of T2DM, these cytokines can enhance insulin resistance which led to impaired glucose homeostasis. Subjects: The study included 75 patients (38 males and 37 females) suffering from T2DM with age mean ± SE 52.30 ± 1.60, and 70 individuals as healthy controls (35 males and 35 females) with age mean ± SE 48.88 ± 0.64. Evaluation of immunological marke

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Publication Date
Fri Apr 30 2021
Journal Name
Onkologia I Radioterapia
The prevalence of lymph proliferative disorders in a group of Iraqi patients and its relation to blood indices parameters
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Abstract: Lymphoproliferative Disorders (LPDs) are a group of neoplasms affecting various cells within lymphoid system. Each type has different treatment a..70619

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Publication Date
Mon Apr 01 2019
Journal Name
Biochemical And Cellular Archives
No etiological role of Herpes Simplex Virus and Toxoplasma Gondii infections in systemic lupus erythematosus of Iraqi Female Patients
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Systemic lupus erythematosus (SLE) is one of the autoimmune disorders, generated by a production of specific autoantibodies against self-antigens before the occurrence of clinical symptoms. The etiology of disease is still unknown, although there have been several infectious agents that have been associated with SLE development, especially in genetically predisposed individuals. Herpes simplex virus-I and -II (HSV-I and -II) and Toxoplasma gondiiare two infectious agents that have been suggested to be involved in SLE etiology. Accordingly, the present study assessed anti- HSV-I and -II and anti-T. gondii IgG and IgM antibodies by enzyme linked immunosorbent assay in sera of 64 SLE female patients and 32 healthy control women. The patients w

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