A Comprehensive Genetic Study of Microtubule-Associated Gene Clusters for Male Infertility in a Taiwanese Cohort.

Advanced reproductive technologies are utilized to identify the genetic mutations that lead to spermatogenic impairment, and allow informed genetic counseling to patients to prevent the transmission of genetic defects to offspring. The purpose of this study was to identify potential single nucleotide polymorphisms (SNPs) associated with male infertility. Genetic variants that may cause infertility are identified by combining the targeted next-generation sequencing (NGS) panel and whole exome sequencing (WES). The validation step of Sanger sequencing adds confidence to the identified variants. Our analysis revealed five distinct affected genes covering seven SNPs based on the targeted NGS panel and WES data: SPATA16 (rs16846616, 1515442, 1515441), CFTR (rs213950), KIF6 (rs2273063), STPG2 (r2903150), and DRC7 (rs3809611). Infertile men have a higher mutation rate than fertile men, especially those with azoospermia. These findings strongly support the hypothesis that the dysfunction of microtubule-related and spermatogenesis-specific genes contributes to idiopathic male infertility. The SPATA16, CFTR, KIF6, STPG2, and DRC7 mutations are associated with male infertility, specifically azoospermia, and a further examination of this genetic function is required.

External rotation of the tibial component should be avoided in lateral unicompartmental knee arthroplasty.

BACKGROUND: Lateral unicompartmental knee arthroplasty (UKA) leads to good clinical outcomes for isolated lateral osteoarthritis. However, the impact of the tibial component position on postoperative outcomes in lateral UKA is yet to be determined. PURPOSE: This study investigated the influence of tibial component malposition on clinical outcomes in lateral UKA. MATERIALS: This was a retrospective study of 50 knees (mean age 73.5 years) who underwent lateral UKA between September 2013 and January 2019. The Oxford Knee Score (OKS), Knee Society Score - Knee (KSSK), and Knee Society Score - Function (KSSF) were evaluated. The coronal alignment, posterior slope of tibial component, tibial component rotation relative to Akagi's line (angle α), and femoral anteroposterior (AP) axis (angle ß) were measured postoperatively. The average follow up period was 2.3 (range, 1-4.9) years. RESULTS: Clinical scores were significantly improved after lateral UKA. The mean coronal alignment was 0.9° ± 3.2° varus (range, 9.1° varus to 5.5° valgus), the mean posterior slope was 6.8° ± 3.8° (range, 0.8° to 14.8°). The mean α and ß angles, were 4.1° ± 5.8° (range, -9.7° to 16.5°) and 6.7° ± 7.1° (range, -7.0° to 20.5°) external rotation. The angle α had significant negative correlations with postoperative OKS (r = -0.36), KSSK (r = -0.28), and KSSF (r = -0.39), and angle ß had significant negative correlations with postoperative OKS (r = -0.34) and KSSK (r = -0.46). CONCLUSION: Excessive external rotation of the tibial component could negatively influence the postoperative outcomes of lateral UKA.