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.
Many international studies indicated that the polymorphisms of some genes disturbed the folate homocysteine (Hcy) metabolism and increased the vulnerability to Down syndrome (DS). We aimed to measure the serum levels of folate and Hcy in DS children and compare the levels with age and sex-matched apparently normal healthy children. We also aimed to study the A80G polymorphism of the gene reduced folate carrier (RFC1) in the DS children as a risk factor. Forty children with DS (24 were boys, and 16 were girls) with the age range between 5-13 years, and 26 normal healthy children (16 boys and ten girls) were included in this study. The results show that the highest genotype in the control group was AG (53.85%) followed by AA and GG (30.
... Show MoreThe objective review is to inspect the involvement of Interleukin-6 (IL-6) in rheumatoid arthritis (RA) and to highlight the role of IL-6 and its variants in the pathogenesis of RA and response to anti-IL-6 agents. Several genetic and environmental risk factors and infectious agents contributed to the development of RA. Interleukin-6 is engaged in self-targeted immunity by modifying the equilibrium between T regulatory (T-reg) and T helper-17 (Th-17) cells. The evidences reported that IL-6 parti
African countries are among the countries in the world that suffer from the phenomenon of child recruitment in wars and conflicts. There are many reasons behind it, including the nature of the human formation of children, the societal violence to which they are exposed, lack of access to education, economic hardships, as well as the role of African wars and conflicts and other reasons that compelled children to join armed groups and participate in military operations. The recruitment of children is divided into two types, compulsory and voluntary, and this leads to many humanitarian and security repercussions that are not limited to a specific period of time but extend to subsequent generations, and due to its seriousness, t
... Show MoreBackground: The antimicrobial resistance is one of the most serious and expanding health problems world -wide in the last decades. The esbl escherichia coli. (extended – spectrum beta-lactamase e.coli) represents an important aspect of it .Objectives: To get an overview on the esbl e.coli prevalence profile in general. Also to assess the antibiotic sensitivity of esbl e. coli trying to specify the most effective antibiotics in combating this micro-organism.Methods: this study tries to focus on this problem in Iraq which through a prospective study approach by taking 35 clinical samples from various sources (urine, blood, abscess, eye ,vagina ,stool and others),and after confirming the presence of e.coli, the presence of esbl e.coli and
... Show MoreThe chronic renal disease is a principle common medical dilemma in Iraq. Peripheral arterial disease (PAD) is a prevalent infirmity in the hemodialysis people. The aim of present study was to estimate the prevalence of PAD in subjects with end-stage renal disease (ESRD). This cross-sectional study was done between January 2016 and May 2017 on ESRD subjects regularly attending renal dialysis unit in Al-Kindy teaching hospital in Baghdad, Iraq. PAD was diagnosed on the base of the ankle-brachial index (ABI) measured by using a hand-held Doppler ultrasound. Subjects with ABI ≤0.9 were supposed positive for PAD. A total of 150 ESRD cases were analyzed. The mean age of the subject was 49.52±15 years. Majority of them were males 87(58%). Most
... Show MoreThe study was carried out in plant tissue culture laboratory, University of Baghdad during the period 2017-2019, as factorial experiment in complete randomized design, to study the effect of PEG at (0, 2, 4, 6 and 8%) on physiological and chemical changes in callus of three sunflower (Ishaqi 1, Aqmar and Al-haga) induced by the cultivation of the young stem in vitro under water stress. The content of callus cells of SOD, POD, CAT and APX enzymes as well as content of hydrogen peroxide were determined as indicators to determine the effect of PEG in callus tissue cells cultivated on medium equipped with the PEG concentrations. The results showed that cultivars were differs significantly and Al-hajavariety was superior in increasing SOD to 24.
... Show MoreGenus Eucalyptus belongs to the family Myrtaceae that consists of more than 700 species, various hybrids and varieties. The majorly distributed species that are grown in Iraq are Eucalyptus alba, E. macarthurii, E. siderophloia and E. camaldulensis, E. tereticornis, E. vicina. Most Eucalyptus species are highly dependent on rainfall, and this is challenged by climatic changes owing to global warming making it difficult to effectively match the availability of mature trees and the market demand, especially for use as power transmission poles. With the widespread availability of other naturally occurring Eucalyptus species, it has become important to determine the genetic diversity and to analyze the phenotypic tra
... Show MoreNon-alcoholic fatty liver disease (NAFLD), characterized by hepatic fat accumulation in individuals consuming little or no alcohol, has become highly prevalent globally. Oxidative stress plays a central role in instigating inflammation and cell death pathways driving NAFLD progression. This case–control study aimed to elucidate the association between circulating levels of the pivotal non-enzymatic antioxidants – coenzyme Q10 and vitamins E and C – and liver injury parameters among 60 Iraqi NAFLD patients versus 30 healthy controls. NAFLD diagnosis entailed over 5% hepatic steatosis on ultrasound excluding other etiologies. Patients spanned three age groups: 20–29, 30–39, an
Salmonellosis in poultry is one of the most significant bacterial infections causing mortality, reduced production, and serious economic losses. This study aimed to study the molecular diversity among Salmonella isolates and investigate the epidemiological spread of these bacteria in broiler and layer chicken flocks in five different farms in Karbala, Iraq, using random amplified polymorphic DNA (RAPD) polymerase chain reaction (PCR). In total, 217 cloac a swabs were collected from the farms, out of which 129 and 88 swabs were taken from broiler and layer chickens. The samples were screened by PCR for S. enterica subsp. enterica using primers specific for the invA gene. Afterward, RAPD-PCR with uniplex or multiplex octamer primers was appli
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