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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 Mar 16 2016
Journal Name
The Iraqi Journal Of Agricultural Sciences
PERFORMANCE EVALUATION OF FIELD AND GENETIC FOR SOME SIXTH RADIO GENERATION MUTANTS IN TOMATO
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The study was conducted at the fields of the Department of Horticulture and Landscape Gardening, College of Agriculture, University of Baghdad " Abu Ghraib" during the growing seasons 2013-2014 to Evaluate the Vegetative growth , yield traits and genetic parameter of some tomato mutants. Results showed significantly increased of plant height in M6-2 mutant 245cm in Comparison with M6- 3 130 cm . M6-4 mutant significantly increasing of floral clusters 13 . Mutant M6-3 showed significantly increasing the average of, fruit weight 125.9g and plant yield 7.17 kg.plant-1 as comparison with M6-2 which showed decreasing of average of fruit weight and plant yield 79.40g and 4.38 kg.plant-1 respectively. Also results showed the highest Genetic variat

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Publication Date
Sun Feb 26 2023
Journal Name
Biomedicine
Polymorphism in SNP rs972283 of the KLF14 gene and genetic disposition to peptic ulcer
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Introduction and Aim: Kruppel Like Factor 14 (KLF14) gene plays an important role in metabolic illnesses and is also involved in the regulation of many other biological processes. This study's objective was to determine whether or not the KLF14 single-nucleotide-polymorphism (SNP) known as rs972283 was linked to an increased risk of peptic ulcer disease in the population that was being investigated.   Materials and Methods: Participants in this study included 71 people who had been diagnosed with peptic ulcers and 50 people who were considered to be healthy controls. In order to genotype the KLF14 SNP rs972283, an amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) was carried out, and the PCR results were

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Publication Date
Tue Apr 18 2023
Journal Name
Bmc Plant Biology
Unravelling the genetic diversity and population structure of common walnut in the Iranian Plateau
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Abstract<sec> <title>Background

Common walnut (Juglans regia L.) has a long cultivation history, given its highly valuable wood and rich nutritious nuts. The Iranian Plateau has been considered as one of the last glaciation refugia and a centre of origin and domestication for the common walnut. However, a prerequisite to conserve or utilize the genetic resources of J. regia in the plateau is a comprehensive evaluation of the genetic diversity that is conspicuously lacking. In this regard, we used 31 polymorphic simple sequence repeat (SSR) markers to delineate the genetic variation and population stru

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Publication Date
Tue Dec 30 2008
Journal Name
Al-kindy College Medical Journal
Etiology of Bloody Diarrhea among Children Admitted to Maternity and Children ’ s Hospital-Erbil
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Background: Bloody diarrhea plays a major role in
morbidity and mortality especially in developing
countries, it is usually a sign of invasive enteric
infection, there is a thought that amoebic dysentery is
more common than bacillary dysentery in Iraq, and
from 1989 to 1997 amoebic dysentery increase from
20000to 550000 patients.
Objectives: This study aims to:
1. Outline the incidence of various infectious causes of
bloody diarrhea in Erbil district.
2. Assess the effect of multiple factors like age, sex,
source of water supply, etc... On the incidence of
amebic and bacillary dysentery.
3. To provide baseline data for making strategic plan to
reduce the diarrhoeal mortality and morbidity.
Met

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Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
Study of total Immunoglobulin E and Eosinophil count in allergic disease
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The present study aimed to evaluate the levels of total immunoglobulin E and percentage count of eosinophil in some of allergic disease. Blood sample collected from 210 patients (110 female, 100 male) with allergic disease (allergic asthma, allergic rhinitis, and urticaria) their age between 10-70 years and 50 healthy control their age between 23-52 years. A highly significant (P<0.01) increase in the mean serum total IgE in patients with asthma (503.54 ± 63.49 IU/ml), Allergic rhinitis (442.77 ± 95.76 IU/ml) and urticaria (489.53 ± 69.68 IU/ml) as a compared with healthy controls (23.67 ± 5.81 IU/ml).There was a significant difference in percentage count of eosinophil in patients groups allergic asthma 4.37 ± 0.52% ,allergic rhinitis

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Publication Date
Tue Nov 11 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Enamel defect of primary and permanent teeth in relation to nutrients daily intake among Down's syndrome children in comparison to normal children
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Background: Any child with Down's syndrome does not develop in the same manner as normal child. Therefore, the child should not be viewed as being like everyone else. Developmental enamel defects in primary teeth have been found at least twice as frequently in disabled children as in control children. Down's syndrome consumed protein more than the recommended daily allowance compared to other disabled groups. Therefore, the aim of this study was to investigate developmental defects of enamel and their relations to nutrient intake among Down's syndrome children in comparison to normal children. Materials and Methods: A sample consisted of fifty institutionalized Down's syndrome children (study group) and 50 normal children (control group)

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Publication Date
Thu May 16 2024
Journal Name
Advancements In Life Sciences
Immunomodulatory Role of Cytokines in Periodontal Disease
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Review Article Immunomodulatory Role of Cytokines in Periodontal Disease Batool Hassan Al-Ghurabi*, Maha Adel Mahmood, Zainab A. Aldhaher, Sahar Hashim Al-Hindawi Adv. life sci., vol. 11,...

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Publication Date
Thu Oct 01 2009
Journal Name
Iraqi Postgraduate Medical Journal
Ventral Penile Papillae as a New Anatomical Structure: A Clinical-Epidemiological Study Among Iraqi Male
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KE Sharquie, JR Al-Rawi, AA Noaimi, MM Jabir, Iraqi Postgraduate Medical Journal, 2009

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Publication Date
Thu Oct 01 2009
Journal Name
Journal
Ventral penile papillae as a new anatomical structure: a clinical-epidemiological study among Iraqi males
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S Khalifa E, AR Jamal R, N Adil A, J Munqithe M…, 2009

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Publication Date
Sat May 08 2021
Journal Name
Annals Of The Romanian Society For Cell Biology
Sequencing of IL-10 Gene Promoter for -592 (A/C) and -1082 (A/G) Positions in Iraqi Children Patients with Type 1 Diabetes Mellitus
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We studied the relationship between DNA sequencing of interleukin-10 (IL-10) gene promoter for -1082 (A/G) and -592 (A/C) positions with the concentration of IL-10 in blood serum of Iraqi children with type 1 diabetes mellitus (T1D). Fifty blood serum samples collected from children with age ranged between 7-12 years. Thirty-five blood samples collected from patient children with T1D, and compared with 15 healthy children age matched as control sample. The results revealed decreasing in anti-inflammatory IL-10 concentration in T1D patient’s blood serum (0.068 Pg/ml) as compared with the control sample (0.111 Pg/ml). No significant differences were found in interleukin concentration between the studied samples when they analyzed with the M

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