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.
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
... Show MoreIntroduction 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
... Show MoreCommon walnut (
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
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
... Show MoreBackground: 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)
... Show MoreReview 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,...
KE Sharquie, JR Al-Rawi, AA Noaimi, MM Jabir, Iraqi Postgraduate Medical Journal, 2009
S Khalifa E, AR Jamal R, N Adil A, J Munqithe M…, 2009
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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