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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 15 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
Mon Mar 15 2021
Journal Name
Iraqi National Journal Of Nursing Specialties
Feeding Behaviors of Children with Autism Spectrum Disorder in Baghdad City
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Objective(s): To assess the behavior that impedes the eating of children with autism spectrum disorders in Baghdad city, and find out the relationships between the behaviors that impede eating of autistic children and their demographic characteristics.
Methodology: The study started from the period of 16th September 2019 to the 16th of March 2020. A non-probability (purposive) sample of 80 children with autism spectrum disorders was selected. The questionnaire was designed and composed of two parts: the first part includes the autistic children demographic data, the second part includes scales of behavior that impede eating followed by parents towards autistic child. The reliability of the questionnaire was determined through a pilot

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Publication Date
Thu Oct 01 2015
Journal Name
Journal Of Educational And Psychological Researches
Installing Quality of Gratitude in Children from an Islamic Educational Perspective
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The study aimed to identify how to raise grateful children from an Islamic educational perspective. For that objective to be achieved, the researcher used both of deductive and descriptive approaches using the method of documentary research. The study's results show that children are the real wealth of the community and the foundation of cultural building; therefore, paying attention their raising is a responsibility that must be shared by everyone; gratitude is part parcel of the Islamic doctrine, which is one of the greatest virtues; the virtue of gratitude is the attitude of the believers which in turn strengthens the bonds and expands the network of positive social relationships; It is also considered a cultural significance

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Publication Date
Wed Sep 30 2020
Journal Name
Indian Journal Of Forensic Medicine And Toxicology. Vol 14 (2
Psychosocial Consequences of Children with Idiopathic Growth Hormone Deficiency in Baghdad
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Publication Date
Sun Mar 01 2020
Journal Name
مجلة العلوم النفسية
Emotional sensitivity in children from the parents' point of view Preparation
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The current research aims to: 1- Identify the emotional sensitivity of children from the parents' point of view. 2- Identifying the differences in the emotional sensitivity of children from the parents ’point of view, according to the parents’ gender variable (father - mother). The basic research sample consisted of (285) male and female students from the sixth grade (primary school), chosen in a randomized stratified method from the districts (Al-Karkh and AlRasafa). While the sample of statistical analysis amounted to (200) father and (200) mothers of male and female students who were randomly selected from the sixth grade of the education directorates (Al-Karkh and Al-Rasafa). The two researchers also used a number of sta

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Publication Date
Sun Dec 05 2010
Journal Name
Baghdad Science Journal
Study of Humoral Immune Response In Children Infected With Visceral Leishmaniasis
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40 blood sample were taken from children infected with kala-azar at age less than ten years, who were admitted to El-Eskan child hospital, and central health laboratory in Baghdad. At the same time 15 sample collected from healthy child for comparing. During research estimated immunoglobulins level ( IgG, IgM, IgA) and (IFAT) IFAT test recorded a higher indicate antibodies level witch was synergistic with infected severity, the stander level of antibodies arrange between 1/16, 1/32 and 1/64 that means it graduate from the lowest one 1/16 into the highest one 1/64 within groups. During infectious the IgG ,IgM level recorded the higher level (2012.9 mg/dl) and (154.3 mg/dl) compared to the control group (874.3 mg/dl),

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Publication Date
Fri Oct 01 2021
Journal Name
Journal Of Al-rafidain University College For Sciences ( Print Issn: 1681-6870 ,online Issn: 2790-2293 )
Nutritional Status of Children below Five Years in Iraq for 2018
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In this article we analysis the data of Iraqi children aged 0-9 months covered in Multiple Indicator Cluster Survey (MICS6-2018) to evaluate the nutritional status . Weight for-age z-score (WAZ), height-for-age z-score (HAZ) and BMI-for-age z-score were compared with the z-scores WHO standards. The overall prevalence of underweight and stunting of the children were 4 % and 11% respectively. Prevalence of overweight based on BMI-for-age for the sexes combined was 21%. Comparing the results obtained from MICS-6 with the results obtained from MICS-4, we find that there is an improvement in the nutritional status of Iraqi children concerning weight, but as for height, we find that there is an increase in the percentage of children who suffer fr

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Publication Date
Sun Jun 15 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Clinical importance of gingival biotype (Review of literature)
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This review discusses the gingival biotypes, their characteristics, analysis based on the measurement of the dentopapillary complex. Also discuss their response to inflammation, surgery, and ridge healing after tooth extraction, their influence in the behavior of the peri-implant tissue

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Publication Date
Tue Aug 01 2017
Journal Name
International Journal Of Agriculture And Biology
Molecular Characterization of a Leaf Curl Disease Infecting Zucchini Squash in Iraq
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