Publications by authors named "C Calo"
Article Synopsis
- - Glucose 6 phosphate dehydrogenase (G6PD) is a crucial enzyme in the pentose phosphate pathway, and its deficiency in red blood cells can lead to acute haemolytic anaemia, especially triggered by oxidative stress from infections or certain foods and medications, such as fava beans.
- - A case study involving a 41-year-old woman from Italy revealed a novel genetic variant (c.1357G>A, p.(Val453Met)) linked to G6PD deficiency, confirmed through advanced DNA sequencing methods.
- - The research emphasizes the significance of Sanger sequencing as a reliable method for confirming genetic variants, particularly for those that may be misidentified using initial testing methods, aligning with WHO guidelines
The vitamin D receptor () is an important candidate gene in musculoskeletal phenotypes. Polymorphisms in the have been previously associated with several pathologies and muscular strength in athletes and elderly people; however, the literature reported contradictory results. The object of this research was to verify the association between the most studied variants (rs2228570, rs7975232, and rs1544410) and the increase in muscle mass in elite young soccer players.
View Article and Find Full Text PDFThe aim of this study was to examine the relationship between BstUI restriction fragment length polymorphisms (RFLP) C/T (rs 12722) and DpnII RFLP B1/B2 (rs 13946) COL5A1 polymorphisms and the anterior cruciate ligament (ACL) rupture in competitive team-sport athletes. Sixty-eight team-sport players (n = 36 women and n = 32 men) with non-contact ACL rupture (ACLR) occurred during sport practices (ACLR Group) and 42 healthy players (n = 20 women and n = 22 men) (Control Group) participated in the study. Genomic DNA was extracted from buccal swab with salting out method.
View Article and Find Full Text PDFIntroduction: As the body's first line of defense against disease and infection, neutrophils must efficiently navigate to sites of inflammation; however, neutrophil dysregulation contributes to the pathogenesis of numerous diseases that leave people susceptible to infections. Many of these diseases are also associated with changes to the protein composition of the extracellular matrix. While it is known that neutrophils and endothelial cells, which play a key role in neutrophil activation, are sensitive to the mechanical and structural properties of the extracellular matrix, our understanding of how protein composition in the matrix affects the neutrophil response to infection is incomplete.
View Article and Find Full Text PDFArticle Synopsis
- A pilot study focused on the relationship between genetic variants, specifically single nucleotide polymorphisms (SNPs), and the risk of muscle injuries in Italian soccer players was conducted with 64 participants.
- Researchers analyzed four specific gene polymorphisms and tracked muscle injuries over a decade, assigning scores to different genotypes based on their injury susceptibility.
- Results indicated significant differences in genotype frequencies and highlighted that players with "protective" genotypes had a lower incidence of injuries compared to those with "worst" genotypes, suggesting a link between genetics and injury risk in athletes.