5 research outputs found
Recommended from our members
Whole Exome Sequencing Identifies a Rare Nonsense Mutation in FAM47C as a Possible Cause of Severe Oligospermia in Brothers With Varicocele
Varicocele is a common cause of impaired semen parameters in men with infertility. Here, we investigated genetic variants as possible causes of varicocele with impaired semen parameters using whole exome sequencing in a family with 2 brothers with severe oligospermia, 1 unaffected brother, father, and the mother. Results showed a premature stop codon alteration on Chromosome X (37028866 CT) in the gene FAM47C. The affected brothers were found to be hemizygous for the variant, while the mother was a heterozygous carrier. In conclusion, identifying men with varicocele that would have impaired spermatogenesis, using approaches like whole-exome sequencing, can be paradigm shifting
Recommended from our members
MP75-08 WHOLE EXOME SEQUENCING IDENTIFIES A RARE NONSENSE MUTATION IN FAM47C AS A POSSIBLE CAUSE OF SEVERE OLIGOSPERMIA IN BROTHERS WITH VARICOCELE
Recommended from our members
Analysis of the growing public interest in selective androgen receptor modulators
To characterise trends and interest in selective androgen receptor modulators (SARMs). SARMs are androgen receptor ligands that bind androgen receptors selectively. SARMs have anabolic effects on muscle and bone and were originally synthesised for treatment of muscle wasting conditions, osteoporosis and breast cancer. To date, no SARM has been clinically approved and little is known about their beneficial effects and other adverse effects on users. We examined Google Trend searches of SARMs. Using Google Trends, we analysed how interest in SARMs has evolved over the last 15 years and compared it to trends in testosterone. Comparing ‘TRT’, ‘SARMs’ and ‘Low Testosterone’ together, we see low search interest in SARMs compared to TRT until February 2018, when the interest in both SARMs and TRT terms appear to be the same. Since February 2018, search interest for SARMs has surpassed search interest for both ‘TRT’ and ‘Low Testosterone’. Trends for SARMs demonstrate a continuous increase over the years which has to date surpassed interest for both ‘TRT’ and ‘low testosterone’. The rising interest in SARMs is concerning as the adverse effects of its usage, including its potential effects on fertility, have not been explored. Further investigation is necessary