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 relationship of hyperuricemia to kidney disease, diabetes, hypertension and the risk of cardiovascular diseases remain controversial. The aim of this study is to evaluate the use of uric acid (UA) levels to find the higher risk of cardiovascular disease (CVD) in patients with end stage renal disease that have diabetic nephropathy (DN), nephropathy with hypertension (NH) and patients with both diabetic nephropathy with hypertension (DNH). This study deals with 115 patients with end-stage renal disease under hemodialysis sub-grouped into 35 patients with (DN), 40 patients with (NH), and 40 patients with (DNH). Some biochemical parameters were determined in the serum of all participants such as HbA1c, fasting blood glucose (FBG), UA, urea,
... Show MoreOften phenomena suffer from disturbances in their data as well as the difficulty of formulation, especially with a lack of clarity in the response, or the large number of essential differences plaguing the experimental units that have been taking this data from them. Thus emerged the need to include an estimation method implicit rating of these experimental units using the method of discrimination or create blocks for each item of these experimental units in the hope of controlling their responses and make it more homogeneous. Because of the development in the field of computers and taking the principle of the integration of sciences it has been found that modern algorithms used in the field of Computer Science genetic algorithm or ant colo
... Show MoreIn this paper, a harvested prey-predator model involving infectious disease in prey is considered. The existence, uniqueness and boundedness of the solution are discussed. The stability analysis of all possible equilibrium points are carried out. The persistence conditions of the system are established. The behavior of the system is simulated and bifurcation diagrams are obtained for different parameters. The results show that the existence of disease and harvesting can give rise to multiple attractors, including chaos, with variations in critical parameters.
Background: This clinical trial aims to evaluate the color changes of direct resin composite veneer (DCV) restorations based on spectrophotometric analysis of 4 different types of resin composites between the baseline immediately after polishing and after one year of follow-up. Materials and methods: 28 patients were assessed for eligibility for participation, aged between 18 and 38 years old, who indicated for DCV restorations in anterior maxillary teeth were considered for participation in this study. In total, 25 patients who met the inclusion criteria were selected (6 males and 19 females, mean age: 20.9 at the time of restoration placement), and 3 patients were excluded. Partic
... Show MoreKlebsiella pneumoniae is a severe opportunistic strain of enteric bacteria that is a major cause of urinary tract infection and pneumonia. This study was conducted in Baghdad City during September 2020-November 2020 on 50 clinical samples of urine, vaginal, sputum, wound swabs, ear swabs, and burn swabs. strains were identified using the VITEK-2 compact system and tested in K. pneumoniae terms of susceptibility to various antimicrobial drugs by Kirby-Bauer test. The isolates were more predominant in the females (56%) compared to males (44%). The antibiotic resistance rate of varied among different isolated clinical sample sources. K. pneumoniae K. pneumoniae isolated from different clinical specimens differed with respect
... Show MoreTench is a cyprinid fish that has undergone human-induced translocations. The natural populations of the species are on the decline due to habitat loss and spawning grounds degradation. The genetic diversity of seven natural populations was investigated to establish the genetic knowledge base for successful conservation efforts and for selective breeding. Twelve microsatellite markers, the sequencing of a 615 bp section of mtDNA (Cytb) and PCR-RFLP analysis of two nuclear markers (Act) and (RpS7) were used to analyze the genetic variation and structure among 175 individuals. All microsatellite loci were found to have moderate levels of polymorphism. The pairwise Fst values between population pairings were moderate; the populations w
... Show Moreيعتبر "تاج الأشواك" أو نبات شوكة المسيح، وهو من نباتات الزينة الطبية ، ينتمي إلى جنس يوفوربيا. E. milii يحتوي كميات وفيرة من المركبات الفينولية ، التربينات، الستيرويدات والقلويدات. كانت الأهداف الرئيسية لهذه الدراسة هي فحص مستخلصات الفلافونويد والنانو فلافونويد ضد نوعين من خطوط الخلايا السرطانية. تم تصنيع مركبات الفلافونويد النانوية عن طريق تفاعل مركب الكيتوسان والماليك اسد. تم تحليل مركبات الفلافونويد ال
... Show MoreBackground: Hypothyroidism is the most abundant thyroid disorder worldwide. For decades, levothyroxine was the main effective pharmacological treatment for hypothyroidism. A variety of factors can influence levothyroxine dose, such as genetic variations. Studying the impact of genetic polymorphisms on the administration of medications was risen remarkably. Different genetic variations were investigated that might affect levothyroxine dose requirements, especially the deiodinase enzymes. Deiodinase type 2 genetic polymorphisms’ impact on levothyroxine dose was studied in different populations.
Objective: To examine the association of the two single nucleotide polymorphism (SNP)s of deiodinase t
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