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 diabetic foot is considered one of the long term diabetes complications caused by a defect in blood vessel and nerve system. This requires dealing with diabetic foot with professional medical care, so as to prevent its development in advanced stages which could end to gangrene and amputation of the foot. This study has been initiated through follow-up of twelve patients with diabetes and the presence various occlusions in lower limb artery. One patient from them was chosen for investigation, this patient has stenosis in popliteal artery and presence multiple stenosis in superficial femoral artery. This study based on analysis present case of patient and prediction for progress stenosis in superficial femoral artery till arrive semi t
... Show MoreBackground: L. sativum, are traditionally used for the treatment of various diseases and thought to have medicinal value. Isolates from many part of the world is now multidrug resistant. Therefore, there is an urgent need to look for and test an alternative herbal drug.
Objective: The present study aimed to evaluate the antibacterial activity of L. Sativum seed extract against multi drug resistant (MDR) and sensitive Pseudomonas aeruginosa clinical isolates.
Subjects and Methods: An ethanolic and aqueous stock extracts were prepared from L. sativum seed plant then serial dilutions were prepared and the obtained concentrations (50, 25, 12.5 and 6.2 mg/ml) were tested against 30 multidrug-resistan
... Show MoreVariation in DNA, and genes to a lesser or greater extent, can play an important role in most diseases; that is because this variation in will reflect and affect the function of DNA, and genes (combined genes and DNA or separately). This can be affected by environment, life style, as well as the inheriting from parents and previous generations. All these factors can contribute in human diseases. There are different alterations in genes, like imbalance and inequality in chromosomes, disorder in gene (deficiency in gene, which could be complex or single disorder), and cancer. In the last decades, scientists were focus on medicine and genetics; they pay an extensive attention to reach better understanding about diseases and their cause
... Show MorePeripheral artery disease (PAD) is associated with increased oxidative stress and impaired endothelial function. Ticagrelor treatment improves antioxidant properties in addition to its antiplatelet effects. This study investigated the impact of Ticagrelor treatment on serum superoxide dismutase (SOD) levels and other biochemical parameters in PAD patients. It also evaluated the potential diagnostic accuracy and clinical utility of specific biomarkers based on receiver operating characteristic (ROC) analysis. Seventy individuals were categorized into healthy control (n=40), baseline PAD patients not on Ticagrelor (B-PAD, n=30), and same PAD patients after treated with Ticagrelor (A-PAD, n=30). Parameters measured included SOD concent
... Show MoreThe haplotype association analysis has been proposed to capture the collective behavior of sets of variants by testing the association of each set instead of individual variants with the disease.Such an analysis typically involves a list of unphased multiple-locus genotypes with potentially sparse frequencies in cases and controls.It starts with inferring haplotypes from genotypes followed by a haplotype co-classification and marginal screening for disease-associated haplotypes.Unfortunately,phasing uncertainty may have a strong effects on the haplotype co-classification and therefore on the accuracy of predicting risk haplotypes.Here,to address the issue,we propose an alternative approach:In Stage 1,we select potential risk genotypes inste
... Show MoreBackground: The normal decline in systolic blood pressure during recovery phase of treadmill exercise dose not occur in most patients with coronary artery disease, in others recovery values systolic blood pressure may even exceed the peak exercise value. Objectives: Treadmill exercise test parameters indicating the presence and extent of coronary artery disease have traditionally included such as exercise duration, blood pressure and ST-segment response to exercise. The three –minute systolic blood pressure ratio is another important indicator of presence and significance of coronary artery disease is useful and obtainable measure that can be applied in all patients who are undergoing stress testing for evaluation of suspected is
... Show MoreThe logistic regression model is one of the oldest and most common of the regression models, and it is known as one of the statistical methods used to describe and estimate the relationship between a dependent random variable and explanatory random variables. Several methods are used to estimate this model, including the bootstrap method, which is one of the estimation methods that depend on the principle of sampling with return, and is represented by a sample reshaping that includes (n) of the elements drawn by randomly returning from (N) from the original data, It is a computational method used to determine the measure of accuracy to estimate the statistics, and for this reason, this method was used to find more accurate estimates. The ma
... Show MoreResearchers have recently increased their focus on the link between autoimmune diseases and infections. Most of the recent research indicates that silent human cytomegalovirus (HCMV), may have diverse roles in the initiation, development, and exacerbation of autoimmune diseases, such as coeliac Disease (CD) and inflammatory bowel disease. The aim of this study is to evaluate the role of HCMV infection in Iraqi patients with CD. Serum samples were obtained from 60 patients with CD, and from 60 healthy subjects. Enzyme-linked immunosorbent assay was used to determine the Anti-Transglutaminase IgG/IgA, Anti-gliadin IgA/ IgG, as well as the HCMV IgM/ IgG levels in the serum samples. Significantly higher percentage of positivity for seru
... Show MoreHypertension is a major health problem throughout the world because of its high prevalence and its association with increased risk of cardiovascular diseases. It is defined as systolic blood pressure ≥ 140 mmHg and/or diastolic blood pressure ≥ 90 mmHg. The aim of this study was to compare the efficacy, safety and cardiovascular disease risk lowering ability, of three antihypertensive drug regimens.
A retrospective study was carried out on 66 hypertensive patients, divided in to three groups based on their antihypertensive drug regimens (ACE inhibitors, β-blockers treated and combination antihypertensive therapy, the combination therapy consist of two or more of the following antihypertensive drugs ACE inhibitor di
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