1.Comparison between radiofrequency coblation and CO2 laser in treatment of vocal leukoplakia
Jie GUO ; Chongsheng FAN ; Yang ZHANG
China Journal of Endoscopy 2016;22(3):60-62
Objective To compare the curative effects between radiofrequency coblation and CO2 Laser in treat-ment of vocal leukoplakia. Methods Clinical data of 29 patients with vocal leukoplakia were retrospectively ana-lyzed. 14 of them were using radiofrequency ablation, the other 15 were using CO2 laser as treatment. Then compare the postoperative pain, postoperative wound healing, the first operation control rate of local recurrence between the two groups. Results Postoperative pain between the two groups has no statistically significance. The mucosal recov-ery of radiofrequency group in 1 month after surgery was better than CO2 laser group. In radiofrequency group, 5 cases suffered recurrence, the recurrence rate was 35.71%; In CO2 laser group, only 1 case suffered recurrence, the recurrence rate was 6.67%. Conclusions Laser and radiofrequency ablation were minimally invasive treatment for vocal cord leukoplakia, while CO2 laser as treatment has lower recurrence rate.
2.Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.
Xinyue ZHAO ; Haijun GE ; Wenshuai XU ; Chongsheng CHENG ; Wangji ZHOU ; Yan XU ; Junping FAN ; Yaping LIU ; Xinlun TIAN ; Kai-Feng XU ; Xue ZHANG
Frontiers of Medicine 2023;17(6):1236-1249
Primary ciliary dyskinesia (PCD) is a highly heterogeneous recessive inherited disorder. FAP54, the homolog of CFAP54 in Chlamydomonas reinhardtii, was previously demonstrated as the C1d projection of the central microtubule apparatus of flagella. A Cfap54 knockout mouse model was then reported to have PCD-relevant phenotypes. Through whole-exome sequencing, compound heterozygous variants c.2649_2657delinC (p. E883Dfs*47) and c.7312_7313insCGCAGGCTGAATTCTTGG (p. T2438delinsTQAEFLA) in a new suspected PCD-relevant gene, CFAP54, were identified in an individual with PCD. Two missense variants, c.4112A>C (p. E1371A) and c.6559C>T (p. P2187S), in CFAP54 were detected in another unrelated patient. In this study, a minigene assay was conducted on the frameshift mutation showing a reduction in mRNA expression. In addition, a CFAP54 in-frame variant knock-in mouse model was established, which recapitulated the typical symptoms of PCD, including hydrocephalus, infertility, and mucus accumulation in nasal sinuses. Correspondingly, two missense variants were deleterious, with a dramatic reduction in mRNA abundance from bronchial tissue and sperm. The identification of PCD-causing variants of CFAP54 in two unrelated patients with PCD for the first time provides strong supportive evidence that CFAP54 is a new PCD-causing gene. This study further helps expand the disease-associated gene spectrum and improve genetic testing for PCD diagnosis in the future.
Mice
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Animals
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Humans
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Male
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Kartagener Syndrome/metabolism*
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Cilia/metabolism*
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Semen
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Genetic Testing
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RNA, Messenger
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Mutation