Analysis of (DPY19L2 gene variant in two brothers affected with globozoospermia / 中华医学遗传学杂志

OBJECTIVE@#To explore the molecular basis for two brothers affected with globozoospermia.@*METHODS@#Whole exome sequencing was carried out for both patients. Candidate variant was verified by Sanger sequencing and quantitative real-time PCR (qRT-PCR).@*RESULTS@#Whole exome sequencing, Sanger sequencing and qRT-PCR verification revealed a heterozygous c.384dup (p.Glu129*) variant in the DPY19L2 gene in the two brothers and their mother. A large heterozygous deletion, spanning approximately 164.5 kb and encompassing the entire DPY19L2 gene, was detected on chromosome 12 of the two patients and their father.@*CONCLUSION@#The c.384dup (p.Glu129*) variant and deletion of the DPY19L2 gene probably underlie the pathogenesis of globozoospermia in the two patients, which was in keeping with the autosomal recessive inheritance of disease in this pedigree.

Double targets percutaneous radiofrequency thermocoagulation in treatment of primary trigeminal neuralgia / 中华神经医学杂志

Objective To discuss the curative effect of double targets percutaneous radiotfrequency thermocoagulation (PRT) on primary trigeminal neuralgia (PTN) and its safety.Methods Sixty patients with PTN were randomly divided into single target treatment group and double targets treatment group.CT guided stereotactic location was used to navigate PRT;patients in the single target treatment group only accepted one target damage and those in the double targets treatment group accepted target damage with 3 mm of deep and shallow interval.The curative effects and complications were compared one week,3 months,one and 2 years after the surgery.Results The percentage of patients with good curative effect in double targets treatment group was significantly higher than that in single target treatment group one and 2 years after surgery,with statistically significant difference (86.7％ vs.60％,70％ vs.45％,P＜0.05).Recurrence rates of double targets treatment group 3 months,one and 2 years after surgery were 0％,3.3％ and 6.7％,which were lower than those in single target treatment group (3.3％,10％ and 16.7％),without significant difference (P＞0.05).Ipsilateralfacial hypaesthesia of different degrees appeared in both groups,but complications as keratohelcosis,diplopia,chewing weakness or difficulty in opening mouth did not appear.And the degree of facial numbness in double targets treatment group was a little higher than that in single target treatment group without statistical significance (P＞0.05).Conclusion Double targets PRT used in PTN treatment can obviously improve the postoperative pain relief and do not apparently increase the degree of postoperative facial numbness as compared with single target PRT.