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.
ZM Al-Bahrani, Medico Legal Update, 2021
Background Cardiovascular disease (CVD) is a leading cause of death worldwide. Ischemic heart disease is a major cause of morbidity and mortality. Lack of blood supply to the brain can cause tissue death if any of the cerebral veins, carotid arteries, or vertebral arteries are blocked. An ischemic stroke describes this type of event. One of the byproducts of methionine metabolism, the demethylation of methionine, is homocysteine, an amino acid that contains sulfur. During myocardial ischemia, the plasma level of homocysteine (Hcy) increases and plays a role in many methylation processes. Hyperhomocysteinemia has only recently been recognized as a major contributor to the increased risk of cardiovascular disease (CVD) owing to its eff
... Show MoreBackground: Alopecia areata(AA) is a common autoimmune disease that causes hair loss without scarring. It occurs as a result of T-helper 1 (Th1) and Th17 cells attacking the anagen hair follicles. Genetic factors play a role in the occurrence of infection, which stimulates the production of pro and anti-inflammatory interleukins. Polymorphisms of IL-37 play a role in autoimmune diseases. However, IL37 single nucleotide polymorphisms(SNP) have not been identified in patients with AA. Therefore, this study aimed to reveal the IL37 gene SNP and its relationship to AA. Methods: Genotyping of IL-37 gene single nucleotide polymorphisms SNPs were detected using sequence-specific primer-polymerase chain reaction (SSP-PCR) method was done following
... Show MoreIn the last few years, the Internet of Things (IoT) is gaining remarkable attention in both academic and industrial worlds. The main goal of the IoT is laying on describing everyday objects with different capabilities in an interconnected fashion to the Internet to share resources and to carry out the assigned tasks. Most of the IoT objects are heterogeneous in terms of the amount of energy, processing ability, memory storage, etc. However, one of the most important challenges facing the IoT networks is the energy-efficient task allocation. An efficient task allocation protocol in the IoT network should ensure the fair and efficient distribution of resources for all objects to collaborate dynamically with limited energy. The canonic
... Show MoreIn the last few years, the Internet of Things (IoT) is gaining remarkable attention in both academic and industrial worlds. The main goal of the IoT is laying on describing everyday objects with different capabilities in an interconnected fashion to the Internet to share resources and to carry out the assigned tasks. Most of the IoT objects are heterogeneous in terms of the amount of energy, processing ability, memory storage, etc. However, one of the most important challenges facing the IoT networks is the energy-efficient task allocation. An efficient task allocation protocol in the IoT network should ensure the fair and efficient distribution of resources for all objects to collaborate dynamically with limited energy. The canonical de
... Show MoreThe present study is designed to reveal the effect of Voltarin drug on some genetic indicators such as mitotic index(MI) of bone marrow cells and chromosome aberrations(CA) .The Voltarin is one of non Steroidal Anti-inflammation drug .Three concentrations of Voltarin were used 1.6 , 2 , 2.5 mg/kg Albino mices (Mus musculus) were injected for 7 days then mitotic index (MI) was counted and chromosomal aberrations of bone marrow cells . The results could be summarized as follows : 1-The doses (1.6,2) mg/Kg showed no negative effects on&nbs
... Show MoreThis study was designed to stand on the most important causes of contamination in sesarean section in women by the aerobic bacteria species the bacteria isolates were diagnosed in the Maternity and Children Hospital in the Qadsiya province and in the special clinics. Sixty five persent of women having cesarean operation were contaminated with different bacteria in different ratios. Staphylococcus aureus showed the higher percentage (62.4) , Pseudomonas.aerogenosa 18% , E.coli 9.5% and Proteus.spp (6,4%).While Streptococcus pyogens showed lowest percentage 3.6% . The results of antibiotic sensitivity test for all bacteria isolates showed Chloramphenicol and Ami
... Show MoreToday the Genetic Algorithm (GA) tops all the standard algorithms in solving complex nonlinear equations based on the laws of nature. However, permute convergence is considered one of the most significant drawbacks of GA, which is known as increasing the number of iterations needed to achieve a global optimum. To address this shortcoming, this paper proposes a new GA based on chaotic systems. In GA processes, we use the logistic map and the Linear Feedback Shift Register (LFSR) to generate chaotic values to use instead of each step requiring random values. The Chaos Genetic Algorithm (CGA) avoids local convergence more frequently than the traditional GA due to its diversity. The concept is using chaotic sequences with LFSR to gene
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