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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
Wed Sep 20 2023
Journal Name
Journal Of Applied And Natural Science
Detection of some virulence genes (esp, agg, gelE, CylA) in Enterococcus faecalis isolated from different clinical cases at Baghdad
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The virulent genes are the key players in the ability of the bacterium to cause disease. The products of such genes that facilitate the successful colonization and survival of the bacterium in or cause damage to the host are pathogenicity determinants. This study aimed to investigate the prevalence of virulence factors (esp, agg, gelE, CylA) in E. faecalis isolated from diverse human clinical collected in Iraqi patient , as well as to assess their ability to form biofilm and to determine their haemolytic and gelatinase activities. Thirty-two isolates of bacteria Enterococcus faecalis were obtained, including 15 isolates (46.87%) of the urine, 6 isolates (18.75%) for each of the stool and uterine secretions, and 5 isolates (15.62%) of the wo

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Publication Date
Sun Sep 15 2024
Journal Name
Journal Of Baghdad College Of Dentistry
The reliability of insertion torque as an indicator for primary stability in immediate dental implant: A prospective clinical study
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Background: The primary stability of the dental implant is a crucial factor determining the ability to initiate temporary implant-supported prosthesis and for subsequent successful osseointegration, especially in the maxillary non-molar sites. This study assessed the reliability of the insertion torque of dental implants by relating it to the implant stability quotient values measured by the Osstell device. Material and methods: This study included healthy, non-smoker patients with no history of diabetes or other metabolic, or debilitating diseases that may affect bone healing, having non-restorable fractured teeth and retained roots in the maxillary non-molar sites. Primary dental implant stability was evaluated using a torque ratc

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Publication Date
Sat Jan 20 2024
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Enhanced Support Vector Machine Methods Using Stochastic Gradient Descent and Its Application to Heart Disease Dataset
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Support Vector Machines (SVMs) are supervised learning models used to examine data sets in order to classify or predict dependent variables. SVM is typically used for classification by determining the best hyperplane between two classes. However, working with huge datasets can lead to a number of problems, including time-consuming and inefficient solutions. This research updates the SVM by employing a stochastic gradient descent method. The new approach, the extended stochastic gradient descent SVM (ESGD-SVM), was tested on two simulation datasets. The proposed method was compared with other classification approaches such as logistic regression, naive model, K Nearest Neighbors and Random Forest. The results show that the ESGD-SVM has a

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Publication Date
Wed Apr 01 2020
Journal Name
Medico-legal Update
Knowledge and protective health behaviors concerning risk factors for coronary heart disease among baghdad university students
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Scopus
Publication Date
Wed Jul 08 2015
Journal Name
Ibn Al-haitham J. For Pure & Appl. Sci.
Evaluation of the Efficacy of Arbuscular Mycorrhizal Fungi in Enhancing Resistance of Lycopersicon esculentum Roots Against Fusarium oxysporum Wilt Disease
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The objective of this investigation was to study the effects of amixture of three arbuscular mycorrhizal species : Glomus etunicatum , G. leptotichum and Rhizophagus intraradices on the induced resistance of Lycopersicon esculentum roots infected with Fusarium oxysporum f.sp.lycopersici which is causal agent of wilt in the presence of organic matter peatmose (O). The work was achieved in aplastic house ( Shed) using pot culture planted for 10 weeks. Results indicated significant increase of all mycorrhizal colonization parameters ( F% , M% , m% , a% , A% ) . Highest percentage of mycorrhization was detected in roots infected with the pathogen 4 weeks after mycorrhizal colonization . On the other hand least colonization was shown in the dual

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Publication Date
Sun Apr 09 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Evaluation of the Efficacy of Arbuscular Mycorrhizal Fungi in Enhancing Resistance of Lycopersicon esculentum Roots Against Fusarium oxysporum Wilt Disease
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   The objective of this investigation was to study the effects of amixture of three arbuscular mycorrhizal species : Glomus etunicatum , G. leptotichum and Rhizophagus intraradices on the induced resistance of Lycopersicon esculentum roots infected with Fusarium oxysporum f.sp.lycopersici which is causal agent of wilt in the presence of organic matter peatmose (O). The work was achieved in aplastic house ( Shed) using pot culture planted for 10 weeks. Results indicated significant increase of all mycorrhizal colonization parameters ( F% , M% , m% , a% , A% ) . Highest percentage of mycorrhization was detected in roots infected with the pathogen 4 weeks after mycorrhizal colonization . On the other hand least colonization was s

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Publication Date
Mon Aug 01 2016
Journal Name
Iosr Journal Of Dental And Medical Sciences
Evaluating the Effect of Showing the Dental Injector to Children on Their Dental Behavior in Relation to the Vital Signs And Maternal Anxiety
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Publication Date
Sun Jun 27 2021
Journal Name
Iraqi National Journal Of Nursing Specialties
Level of Depression and Anxiety among School Age Children with Acute Lymphoblastic Leukemia under Chemotherapy Treatment at Pediatric Teaching Hospitals in Baghdad City
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Objective(s): To assess the level of depression and anxiety among school age children with acute lymphoblastic leukemia under chemotherapy treatment and to find out the relationship between the level of depression and anxiety among the affected children and their demographic characteristics.
Methodology: A cross-sectional study was conducted on school age children both gender having acute lymphoblastic leukemia under chemotherapy treated and their age between 6 years to 12 years. The study started from the period of September, 19th 2020 to March,1st 2021. Non-probability (Purposive) sample of (114) children with acute lymphoblastic leukemia under chemotherapy was selected in attending hospital wards, outpatient and counseling clinics

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Publication Date
Sun Jun 22 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of systemic administration of Simvastatin on dental implant stability: A random clinical study
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Background: the primary objective for many researches carried out in dental implantology was to reduce the period needed for functional implant loading, simvastatin (cholesterol lowering medication) had many pleiotropic effects, one of which was increasing bone density around titanium implants (1) and subsequently establishing faster osseointegrated dental implants (2,3). This study aims to reduce the period of time needed to establish secondary stability of dental implant measured in ISQ (Implant Stability Quotient) by investigating the effect of orally administered simvastatin on bone. Materials and methods: simvastatin tablets (40mg/day for three months) were administered orally for 11 healthy women aged (40-51) years old who received 1

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Publication Date
Sat Sep 23 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Study on Protease Produced by Pseudomonas aeruginosa Isolated From Clinical Cases
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Fifty  isolates   of  Psel.ldomonas  aeruginosa were  obtained   from

(170)  isoiates  of ctlinical cases. Sensitivity  of the isolates t()  antibiotic leveled   showed   a   high   resistance    to   cefotaxime,  ceftazidime, gentamicin  and  tobramycin.  To  less  extent   was  the  resistance   to· amikacin  and  ciprofloxacine.  All isolates of        Pseudomonas aeru,ginosa were highly sensitive  tocefepime and imipenem.

Eighty six  perce

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