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.
Mutations in genes encoding proteins necessary for detoxifying oxidative stress products have been predicted to increase susceptibility to lung cancer (LC). Despite this, the association between waterpipe tobacco smoking (WP), genetic polymorphisms, and LC risk remains poorly understood. This is the first study to explore the relationship between WP tobacco smoking and these genetic factors. Previously, we investigated the association of GSTP1 SNPs (rs1695-A/G and rs1138272-C/T) with LC in Iraqi males who smoke WP. Here, we expanded our analysis to include GSTM1 (active/null) and GSTT1 (active/null) genotypes, both individually and in combination with GSTP1 SNPs. Multiplex PCR and RFLP-PCR assays were utilized to determine the genotypes of
... Show MoreUrine proteomics have been an area of interest and recently in Kala-azar as an alternative sample type for serum or plasma. Because of simplicity, noninvasiveness of collection and simpler matrix. Many studies had detected an increased protein excretion in the urine of patients with active Kala-azar due to renal involvement particularly by an immunological related mechanism(s). This study have demonstrated the presence of three different protein profiles in Iraqi children (Patients: including 60 children aged 4-60 months) with defined Kala-azar using the conventional SDS-PAGE on urine samples. Urine protein profile in Kala-azar patients revealed three groups of banding patterns: group-1(33.4)% of the patients show the pattern of 5
... Show MoreThis study accomplished to determine levels of salivary Alpha-Amylase (sAA) in Iraqi children with positive family history of hypertension, Hypertension was believed to be a risk factor in 18% of all deaths in 2010 (9.4 million globally). This study included one hundred children from primary school aged 6 to 13 years, with a focus in child welfare and family health history, with an emphasis on close relatives' hypertension reputations, with hypertension close relatives record categories identified by 1st and 2nd relatives, after documenting the full details, the burden was assessed for the children's families. The influence of age is confirmed by a correlation study of our own numbers, which shows a positive correlation. The disparity betwe
... Show MoreBackground: Several studies linked the development of steroid-resistant nephrotic syndrome (SRNS) to genetic variations in the multidrug resistance 1 (MDR1) gene, though a disparity in findings was underlined among children with different ethnic origins. Objective: This study examined the relationship between MDR1 variants (rs2032582 and rs2032583) and the risk of developing SRNS in Iraqi patients with idiopathic nephrotic syndrome (INS). Methods: This case-control study included children with steroid-sensitive INS (SSNS; n=30) and SRNS (n=30) from the Babylon Hospital for Maternity and Pediatrics. Sanger sequencing was used to determine the participants’ genotypes. Results: The rs2032582 genotypes and alleles were not associated
... Show MoreAn experiment was carried out in the fields of Agriculture College-Baghdad University during spring and autumn of 2015 by using a randomized complete blocks design with three replications. The first season hybridization was established among three pure cultivars of cowpea (Vigna uniguiculata L.) which: Ramshorn, California black eye and Rahawya in full diallel crosses according to Griffing with first method and fixed model (3 parents+ 3 diallel hybrids +3 reciprocal hybrids) and a comparison experiment was in autumn season. The result of statistical analysis showed that there was a significant difference among the parents and their hybrids for all the studied characters. The parent 1 was the higher for root nodules number , leaf number, pod
... Show MoreWe conducted an experiment in a greenhouse at the research station belonging to the Department of Plant Protection / Ministry of Agriculture, in Abu Ghraib area during the spring and autumn season 2022-2023, to study the population density of the whitefly on two varieties of sweet pepper plant (Charisma and Sierra Nevada). The experiment was laid out in a randomized complete block design “RCBD” with three replicates for each variety. The results showed that in spring season the population density of
We conducted an experiment in a greenhouse at the research station belonging to the Department of Plant Protection / Ministry of Agriculture, in Abu Ghraib area during the spring and autumn season 2022-2023, to study the population density of the whitefly on two varieties of sweet pepper plant (Charisma and Sierra Nevada). The experiment was laid out in a randomized complete block design “RCBD” with three replicates for each variety. The results showed that in spring season the population density of
A biological experirne.rit was CQhducted ·ll1 the (Ibn- AlÂ
Haitham). University of Baghdad for growing seasens on of
2004/2005 (by using gypsum soil taken from Al- Doar area I Salah Al Dean provinc) to stucl·- the effect three levels of phosphorus (0, 400,
SOO)rng ! pot and four levels of zinc (0, 10,.. J 5, 2.0) tngf I pot on some
features of two varieties -Qf wheat, (triticum aestivurn var. rateh)and
(Triticum aestiv1lm Var. Ipa 99)..
R't
... Show More