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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
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Mothers Knowledge and Practices with Hemophilic Children type A at Azadi Teaching Hospital in Kirkuk City
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Objective: The study aims to assess the knowledge and practices of mothers with hemophilia children type - A - ,
socio-economic status and association between mother demographic information with their knowledge and practices
toward their children in Azadi Teaching Hospital in Kirkuk.
Methodology: Descriptive study no probability (purposive) sample. Selected Fifty-five of mothers having hemophilia
children, started from November 2012 to May 2013. Study was carried out in the Azadi teaching hospital in
Kirkuk. By using questionnaire which consists from five parts include demographic characteristics for mother and
children, socio-economic, Knowledge and practices data gathered, by direct interview with the mothers in the

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Publication Date
Wed Jan 01 2014
Journal Name
Int. J. Adv. Res
Antibacterial activity of parsley and celery aqueous extract on the isolated bacteria from children UTI in Erbil city‏
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Publication Date
Tue Oct 01 2024
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Evaluation of Interleukin-31 Serum Levels in Patients with Chronic Kidney Disease on Hemodialysis with and without Uremic Pruritus
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الخلاصة: الحكة اليوريمية لدى مرضى غسيل الكلى يؤثر على أكثر من 40٪ من المرضى. وربما ترتبط الحكة المستمرة بمستويات عالية من الإنترلوكين 31. الاهداف: النظر إلى مستويات مصل إنترلوكين 31 لدى مرضى غسيل الكلى المصابين بمرض الكلى في المرحلة النهائية، سواء مع أو بدون حكة يوريمية. النتائج: لم يكن مستوى المصل [الوسيط (] لـ IL-31 في المرضى الذين يعانون من الحكة اليوريميةأو بدون حكة في عينة مصل ما قبل غسيل الكلى مختلفًا بشكل م

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Publication Date
Wed Jan 01 2020
Journal Name
Journal Of Biotechnology Research Center
Molecular screening of the entA gene of Enterococcus faecium isolated from Food and clinical sources
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Background: The microbial production of substances that have the potency to suppress the growth of other microorganisms is probably one of the prevalent defense strategy developed in nature, microorganisms produce a variable bunch of microbial defense systems, which include antibiotics, metabolic by-products, lytic agents, bacteriocins and others. Objective: The purpose of the present study was to isolate and identify Enterococcus faecium isolates then detecting its ability of carrying the gene responsible for enterocin production in this species. Materials and methods: Out of 50 samples from different sources (food and clinical sources) were collected for the Enterococcus faecium isolation, and the isolated bacteria Enterococ

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Crossref
Publication Date
Thu Jul 01 2021
Journal Name
Biochemical And Cellular Archives
Determination of Beta Lactam Resistance of Klebsiella pneumoniae isolated from clinical specimens and water samples
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Publication Date
Thu Apr 01 2021
Journal Name
Iraqi J Of Agricultural Science
Determination of Beta Lactam Resistance of Klebsiella Pneumoniae Isolated from Clinical Specimens and Water Samples
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Scopus
Publication Date
Fri Apr 04 2025
Journal Name
European Journal Of Dentistry
The Effectiveness of Conventional and Advanced Aligning Archwires: The Insights of Two Randomized Clinical Trials
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Abstract<p> Objectives This study aimed to compare the clinical effectiveness of four aligning archwires: Superelastic Nickel-Titanium (Superelastic-NiTi), SmartArch, Copper-Nickel-Titanium (Cu-NiTi), and Speed Tubular coaxial-Nickel-Titanium (Tubular coaxial-NiTi), regarding the alignment efficiency, associated perception of pain, and possibility of inducing root resorption.</p><p> Materials and Methods This study includes two randomized clinical trials run in parallel. Patients with 5 to 9 mm of mandibular anterior teeth crowding according to Little's irregularity index (LII) who needed fixed orthodontic appliances without extraction were randomly assigned to four groups of</p> ... Show More
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Publication Date
Tue Mar 14 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Enterpathogen Associated With Diarrheal Cases in Children Aged ( >1-15) Years in Baghdad
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The goal of this study is to determine interior pathogen that causes Diarrhea state to chidren between (1-15) years old, theirs patient from (learn hospital of alemamen alkadoman) in the city of Baghdad from 25/4/2014 to 1/10/2014 period of time, the study represents 103 sample of stool, the result represents that highest ration of infected by 48.545%, Rotavirus 39.80%, mix infected(parasite + Rotavirus) 8.73%, with record of lowest infection ration 2.91%, found during the study that the age group 1-5 years showed the highest percentage of injury Rotavirus by also reached 60.98% case common injury (Rotavirus and parasitic) where this age group, the highest recorded percentage of injuring 66.67%, As for parasitic infected which represente

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Publication Date
Mon Feb 04 2019
Journal Name
Journal Of The College Of Education For Women
Study of Television Advertising and its Impact on Consumer Behavior in a Sample of Children Aged 9-12 Years
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The aim of this study was to study TV advertising and consumer behavior in children and to meet the needs of children. The study included 100 children from Baghdad who were randomly selected from different regions ranging in age from 9-12 years of both males and females. The current research was based on the interview and the completion of special forms prepared for this purpose. This age group was selected for the rare studies conducted on television advertising and limited to different sectors. Data on age and sex were documented, as the results of this study proved The afternoon period was the preferred period for watching the TV show in males, where it was 22%, while the morning period was the female favorite, and it was 23%. The ind

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Publication Date
Wed Jun 17 2020
Journal Name
Journal Of Research In Medical And Dental Science
Impact of Thumb Sucking Habit on Eruption of Permanent Teeth and Intelligence Quotient Among Children in Karbala City, Iraq
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Background: There is a pronounced controversy regarding the dental and mental consequences of thumb sucking habit, which is a familiar nonnutritive pattern of sucking. Commonly, this behavior is harmless, yet those who sustain this pattern may have dental alterations and emotional difficulties. Children’s intelligence level influences their capabilities to judge, evaluate and handle priorities and/or problems profoundly and precisely. Thumb sucking habit might be a manner of liberating the psychological tenseness among several children. Objective: The purpose of this study is to assess the prevalence of thumb sucking habit and its relation to the eruption of permanent teeth and IQ among children aged 6-7 years old. Subjects and methods: I

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