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.
PvcABCD are cluster of genes found in Pseudomonas aeruginosa. The research was designed to examine the relationship between the pvc genes expression and cupB gene, which plays a crucial role in the development of biofilm, and rhlR, which regulates the expression of biofilm-related genes, and to investigate whether the pvc genes form one or two operons. The aims were achieved by employing qRT-PCR technique to measure the gene expression of genes of interest. It was found that out of 25 clinical isolates, 21 isolates were qualified as P.aeruginosa. Amongst, 18(85.7%) were evaluated as biofilm producers, 10 (47.6%), 5 (23.8%), and 3 (14.2%) were evaluated as strong, moderate and weak producers respectively, while, 3 (14.2%) were considered
... Show MoreNot necessarily to be malnutrition is a result of poverty and lack of food, it may be the outcome of the wrong food practices; and the lack of knowledge in nutrition basis and chronic diseases. Some studies have confirmed that the more the knowledge in nutrition basis increased, the more the child has well-balanced food.
Unhealthy eating habits spread among children at an early age, which is one of the negative factors affecting the nutritional status they have causing various disorders as a result of lack or increase of food or lack of balance. The signs and symptoms of these disorders can be simple or can lead to deadly diseases.
Training children on proper eating habits in different fields of life is considered the mos
... Show MoreThe 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 MoreCox regression model have been used to estimate proportion hazard model for patients with hepatitis disease recorded in Gastrointestinal and Hepatic diseases Hospital in Iraq for (2002 -2005). Data consists of (age, gender, survival time terminal stat). A Kaplan-Meier method has been applied to estimate survival function and hazerd function.
Diabetic foot ulcer (DFU) or Lower limb ulcers are one of the major complications caused by diabetes mellitus especially when patients fail to maintain tight glycemic control. DFU is linked to multiple risk factors along with the genetic factors and ethnicity which play a significant role in the development of DFUs through their effects on multiple aspects of the pathophysiological process. This narrative review aimed to summarize all the previous studies within the last ten years associating gene polymorphism and DFU. Polymorphism associated with vascular endothelial growth factor (rs699947), the G894T polymorphism of the endothelial nitric oxide synthase gene, interleukin-6–174 G>C gene polymorphism, heat shock protein 70 gene polymorph
... Show MoreTexture synthesis using genetic algorithms is one way; proposed in the previous research, to synthesis texture in a fast and easy way. In genetic texture synthesis algorithms ,the chromosome consist of random blocks selected manually by the user .However ,this method of selection is highly dependent on the experience of user .Hence, wrong selection of blocks will greatly affect the synthesized texture result. In this paper a new method is suggested for selecting the blocks automatically without the participation of user .The results show that this method of selection eliminates some blending caused from the previous manual method of selection.