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.
Aim of the study is to find any correlation between obesity (insulin resistance) and type I diabetes in children. Obesity and diabetes mellitus are the common health problems, and obesity is common cause of the insulin resistance. The results revealed marked increased in glucose, insulin, HbAlc and insulin resistance in obese diabetic type I patients comparing to control group they were obese and non-obese found to be within normal values for glucose, insulin, FIbAlc , and insulin resistance.
ZM Al-Bahrani, Medico Legal Update, 2021
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... Show MoreThe treatment of migraine headache targets the neurovascular mechanism and involves the use of serotonin receptor antagonists. Some of these drugs are used for the treatment of acute attacks; while others are effective as prophylactic measures to decrease the duration and frequency of attacks. Pizotifen, a 5-HTA antagonist, is one of the prophylactic drugs for which the clinical use resulted in low outcomes in reducing migraine symptoms. Melatonin, a serotonin derived neurohormone, was reported to exert many functions like sleep induction, anti-inflammatory, neurovascular regulation, cytoprotection and modulation of neurotransmitter release. In the view of the involvement of serotonin in the pathophysiology of migraine a
... 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
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