A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms / 亚洲男科学杂志(英文版)

Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects. Most cases are due to mutations in genes encoding the components of sperm flagella, which have an ultrastructure similar to that of motile cilia. Coiled-coil domain containing 103 (CCDC103) is an outer dynein arm assembly factor, and pathogenic variants of CCDC103 cause primary ciliary dyskinesia (PCD). However, whether CCDC103 pathogenic variants cause severe asthenoteratozoospermia has yet to be determined. Whole-exome sequencing (WES) was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family. A homozygous CCDC103 variant segregating recessively with an infertility phenotype was identified (ENST00000035776.2, c.461A>C, p.His154Pro). CCDC103 p.His154Pro was previously reported as a high prevalence mutation causing PCD, though the reproductive phenotype of these PCD individuals is unknown. Transmission electron microscopy (TEM) of affected individuals' spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms, similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same mutation. Thus, our findings expand the phenotype spectrum of CCDC103 p.His154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.

Multimodal Intraoperative Neurophysiological Monitoring in Spine Surgeries: The Experience at a Spine Centre through Years

Methods@#This retrospective study was performed on 408 patients who had undergone spine surgeries with IONM during April 2014 to March 2020 at a single center. The operative report, anesthesia record, and IONM were reviewed. All the patients were reassessed for postoperative neurological deficits in the postoperative period and followed up based on the intraoperative findings and neurological deficits for 4 weeks. Signal changes in IONM were reviewed, and the obtained results were further categorized into true positive, true negative, false positive, or false negative. If changes were observed during the IONM, the patients were managed as per the algorithm. @*Results@#Of the 408 patients being monitored continuously during the intraoperative period, 38 showed changes in recordings, 28 developed postoperative neurological deficits, and one developed neurological deficit without any change in the IONM. Nine patients had transient neurological deficits, and the other 20 had permanent neurological deficits. Overall, the multimodal IONM used in our study had a sensitivity of 96.6%, specificity of 97.4%, a positive predictive value of 73.7%, and a negative predictive value of 99.7%. @*Conclusions@#Use of decision algorithm and multimodal neuromonitoring consisting of motor evoked potentials, somatosensory evoked potentials, and electromyography complement each other in the detection of neurological injury during the course the surgery, improve intraoperative care, and prevent further damage and morbidity in patients.