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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 07 2009
Journal Name
Baghdad Science Journal
Compatibility between Pseudomonas fluorescens and Trichoderma harzianum in disease control of Fusarium tomato wilt under greenhouse condition .
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This study was conducted to evaluate the efficacy of 6 isolates of Pseudomonas fluorescens and Trichoderma harzianum and there combination against Fusarium tomato wilt disease caused by Fusarium oxysporum F.sp. Lycopersisi under green house condition .The isolates of bacteria (B3) and Trichoderma (T1) were found to be highly effective in reducing the disease incidence to 13.3% , 21% respectively , compared to control treatment (40%).Furthermore, disease severity was reduced to 28 and 30% respectively in comparison to control (90%) .Colonization of the roots (cfu /g fresh root weight )by the two isolates whether alon or together was extremely high . The combination treatment had a high ability in reducing disease incidenece and sev

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Publication Date
Sat Oct 01 2022
Journal Name
Baghdad Science Journal
Assessment of Obesity, Dyslipidemia, Hyperglycemia, and Pro-Inflammatory Cytokines as Cardiovascular Disease Risk Factors in Acromegaly Patients
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Cardiovascular disease is one of the most common comorbidities associated with enlarged extremities, occurring in 60 % of patients with acromegaly. The aim of this study is to evaluate the relationship of growth hormone and insulin such as growth factor-1 with obesity, dyslipidemia, hyperglycemia, and pro-inflammatory cytokines (IL-2, IL-6, IL-10), as risk factors for cardiovascular disorder in acromegaly patients. Eighty subjects were included and categorized into two groups: 40 acromegaly patients and 40 of the control group. The results indicated weight excess, hyperglycemia, hypertension, lipid disorder, and elevated levels of interleukins (2, 6, and 10). The correlation of both GH and IGF-1 with each of weight, BMI, systolic blood p

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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Regeneration of Pain, Touch, Cold, and Warmth, sensations in split thickness human skin grafts in adults (A clinical study)
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Back ground: Skin grafting is the most common form
of reconstructive surgery, and regeneration of
sensations in skin grafts is a complex process
influenced by many factors such as , the thickness of
the graft, the depth of the grafted bed, meshing of the
graft, the condition of the bed and the surrounding
area. So many studies performed on this subject, some
of them clinically based on subjective type of sensation
tests, and others histological to detect the presence of
nerve fibers in the grafted skin
Objectives: To detect return of sensations to split
thickness skin grafts by clinical methods.
Methods: From Oct. 1995 to Oct. 2010, a clinical
prospective study performed in Al wasity Hospital for

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Publication Date
Wed Mar 30 2022
Journal Name
Journal Of Educational And Psychological Researches
Cognitive Distortion And Its Relationship of Parenting Reinforcement For Kindergarten Children
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This research aims to identify the cognitive distortion of kindergarten children and its relationship to their parenting reinforcement. The researcher used the descriptive approach, being the closest to reaching the study objectives, To measure the relationship between the research variables, the researcher prepared two questionnaire tools for this purpose, the first for measuring "cognitive distortion", And the second is to measure "parental reinforcement", and each tool consisted of (20) items.                         

After ensuring the validity and reliability of the two research tools and their suitabi

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Publication Date
Mon Sep 29 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Assessment of serum levels of MMP-8 and hs CRP in chronic periodontitis patients in relation to atherosclerotic cardiovascular disease
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Background: Periodontitis and Atherosclerosis Cardiovascular disease are chronic inflammatory diseases which are highly prevalent. During the last two decades, there has been an increasing interest in the impact of oral health on atherosclerosis and subsequent cardiovascular disease.Aims of the study wereto evaluate the periodontal health status in study groups (Atherosclerotic cardiovascular disease patients with chronic periodontitis and patients having chronic periodontitis),to estimate the serum levels of Matrixmetalloproteinase-8(MMP-8) and high sensitive C-reactive protein(hs CRP) in study and control groups and compare between them. Also,test the correlation between the serum levels of MMP-8 and hs CRP with clinical periodontal par

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Publication Date
Sat Jan 01 2022
Journal Name
Clinical And Experimental Hepatology
Effectiveness of sofosbuvir/ledipasvir in hepatitis C virus infection in children and adolescents with malignancy: tertiary center experience
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Publication Date
Mon Sep 29 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Clinical and radiographical evaluation of pulpotomy in primary molars treated with Pulpotec (PD), Formocresol and Mineral Trioxide Aggregate (MTA)
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Background: Pulpotomy is an accepted treatment for the management of cariously exposed pulps in symptom free primary molars to achieve one of the most important goals for Pedodontists, which is the retention of the pulpally involved deciduous teeth healthy until the time of normal exfoliation. The purpose of this study was to evaluate the relative success of pulpotec, formocresol and Mineral Trioxide Aggregate (MTA) in cariously exposed primary molar teeth, using clinical and radiographical examinations. Materials and methods: Thirty nine children with 45 primary molars requiring pulpotomy were selected in this study, 15 teeth treated by each type of pulpotomy medicament. Clinical and radiographical follow up for the patients was performed

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Publication Date
Tue Jan 01 2013
Journal Name
Journal Of Baghdad College Of Dentistry
Clinical and Radiographical Evaluation of Pulpotomy in Primary Molars Treated with Pulpotec ( PD ) , Formocresol and Mineral Trioxide Aggregate ( MTA )
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Publication Date
Tue Mar 28 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Relationship between Blood Lead Levels and Hematological Parameters in Children from Al-Fallujah City in Iraq
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Environmental exposures to lead remain a serious problem in the developing and industrializing countries. Children are the highest risk aged-group for lead poisoning. This study was designed to assess lead exposure in Al-Fallujah city by analyzing blood lead levels in children and adults and to explain the relationship between blood lead levels, hematological parameters and ferritin levels in the children. The study was performed on-(90) subjects, (65children and 25 adults).Venous blood samples were taken for estimation of hematological parameters, serum ferritin levels and blood lead levels. The children group was subdivided into four groups as: group (A) (low ferritin, low Hb), group (B) (low ferritin, normal Hb), group (C) (normal fer

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Publication Date
Tue Aug 28 2018
Journal Name
Mechanical Sciences
Mechatronic design and genetic-algorithm-based MIMO fuzzy control of adjustable-stiffness tendon-driven robot finger
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Abstract. This work presents a detailed design of a three-jointed tendon-driven robot finger with a cam/pulleys transmission and joint Variable Stiffness Actuator (VSA). The finger motion configuration is obtained by deriving the cam/pulleys transmission profile as a mathematical solution that is then implemented to achieve contact force isotropy on the phalanges. A VSA is proposed, in which three VSAs are designed to act as a muscle in joint space to provide firm grasping. As a mechatronic approach, a suitable type and number of force sensors and actuators are designed to sense the touch, actuate the finger, and tune the VSAs. The torque of the VSAs is controlled utilizing a designed Multi Input Multi Output (MIMO) fuzzy controll

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