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.
Abstract—The upper limb amputation exerts a significant burden on the amputee, limiting their ability to perform everyday activities, and degrading their quality of life. Amputee patients’ quality of life can be improved if they have natural control over their prosthetic hands. Among the biological signals, most commonly used to predict upper limb motor intentions, surface electromyography (sEMG), and axial acceleration sensor signals are essential components of shoulder-level upper limb prosthetic hand control systems. In this work, a pattern recognition system is proposed to create a plan for categorizing high-level upper limb prostheses in seven various types of shoulder girdle motions. Thus, combining seven feature groups, w
... Show MoreBackground: Adipose derived-mesenchymal stem cells have been used as an alternative to bone marrow cells in this study. Objective: We investigated the in vitro isolation, identification, and differentiation of stem cells into neuron cells, in order to produce neuron cells via cell culture, which would be useful in nerve injury treatment. Method: Mouse adipose mesenchymal stem cells were dissected from the abdominal subcutaneous region. Neural differentiation was induced using β-mercaptoethanol. This study included two different neural stage markers, i.e. nestin and neurofilament light-chain, to detect immature and mature neurons, respectively. Results: The immunocytochemistry results showed that the use of β-mercaptoethanol resulted in
... Show MoreAqueous extract of poppy plant) Papaver nudicaule) with five concentrations (50, 100, 150, 200 and 250) mg/l were used to anesthetize fingerlings of the common carp Cyprinus carpio (Mean total length 8.91 ± 0.31 cm and mean total weight 7.72 ± 1.19 gm) instead of the traditional use of MS-222. Results showed that extracted solution of poppy have partial and overall anesthesia effect on these fishes with inverse relationship between the concentrations used and the time needed to reach partial and overall anesthesia, and also direct relationship between concentrations used and time needed for fish recovery. Best results were obtained by using a concentration of 250 mg/l, where time for partial anesthesia was 8 ± 1.52 m
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