TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery / 临床耳鼻咽喉头颈外科杂志

Objective:By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome（TCS）, the biological causes of the disease were determined. Then discuss the therapeutic effect of hearing intervention after bone bridge implantation. Methods:All clinical data of the two family members were collected, and the patients signed the informed consent. The peripheral blood of the proband and family members was extracted, DNA was extracted for whole exome sequencing, and Sanger sequencing was performed on the family members for the mutation site.TCOF1genetic mutations analysis was performed on the paitents. Then, the hearing threshold and speech recognition rate of family 2 proband were evaluated and compared under the sound field between bare ear and wearing bone bridge. Results:In the two pedigrees, the probands of both families presented with auricle deformity, zygomatic and mandibular hypoplasia, micrognathia, hypotropia of the eye fissure, and hypoplasia of the medial eyelashes. The proband of Family 1 also presents with specific features including right-sided narrow anterior nasal aperture and dental hypoplasia, which were consistent with the clinical diagnosis of Treacher Collins syndrome. Genetic testing was conducted on both families, and two heterozygous mutations were identified in the TCOF1 gene: c. 1350_1351dupGG（p. A451Gfs*43） and c. 4362_4366del（p. K1457Efs*12）, resulting in frameshift mutations in the amino acid sequence. Sanger sequencing validation of the TCOF1 gene in the parents of the proband in Family 1 did not detect any mutations. Proband 1 TCOF1 c. 1350_1351dupGG heterozygous variants have not been reported previously. The postoperative monosyllabic speech recognition rate of family 2 proband was 76%, the Categories of Auditory Performance（CAP） score was 6, and the Speech Intelligibility Rating（SIR） score was 4. Assessment using the Meaningful Auditory Integration Scale（MAIS） showed notable improvement in the patient's auditory perception, comprehension, and usage of hearing aids. Evaluation using the Glasgow Children's Benefit Inventory and quality of life assessment revealed significant improvements in the child's self care abilities, daily living and learning, social interactions, and psychological well being, as perceived by the parents. Conclusion:This study has elucidated the biological cause of Treacher Collins syndrome, enriched the spectrum of TCOF1 gene mutations in the Chinese population, and demonstrated that bone bridge implantation can improve the auditory and speech recognition rates in TCS patients.

Sclerotherapy for faciocervical lymphatic malformations under digital subtraction angiography in children / 临床耳鼻咽喉头颈外科杂志

Objective:To investigate the efficacy and advantages of fluoroscopy sclerotherapy treatment for the faciocervical lymphatic malformations (LMs) under digital subtraction angiography (DSA) in children. Method:Retrospective analysis of 48 cases of lymphatic malfromations who were treated with intratumoral injection of Pingyangmycin and iohexol under DSA and fluoroscopy, and followed up in Kunming children's hospital. Result:Forty-eight cases of children were treated 1 to 5 intratumoral injection of Pingyangmycin and iohexol that carried out under DSA and fluoroscopy. Follow up ranged from 6 to 18 months, 22 cases (45.83%) were cured, 19 cases (39.85%) were markedly effective, 5 cases (10.42%) were effective and 2 cases (4.17%) were ineffective. The total effective rate was 95.83% with no scarring, pigmentation and significant postoperative complications. Conclusion:Intratumoral injection of Pingyangmycin under DSA is an effective and safe method for treatment of lymphatic malformations in children and has the advantages of positioning accuracy, less damage, fewer complication and no influence on apperarence and function.

Initial study of the degeneration of lumbar intervertebral discs by magnetic resonance diffusion tensor imaging / 中华放射学杂志

Objective To evaluate the earlier changes of degeneration discs in vivo using magnetic resonance diffusion tensor imaging (DTI).Methods From September 2010 to March 2011,88 consecutive outpatients [age 16-63 years,mean age (37 ± 13) years] were enrolled in this study.The excluded criteria were as follows: spinal deformity,spinal tumors and post-operation of spine.The mean diffusion (MD) and fractional anisotropy (FA) values on DTI images of 428 intervertebral discs which without susceptibility artifacts were measured.Fiber track (FT) images of annulus of intervertebral discs were analyzed.MD and FA were also measured on FT.The quartile and median were used to record the nonnormal distribution dates.The Chi-square test statistic was applied by SPSS1 1.0 software package.Results Annulus fibrosis type had closely related to the Pfirrmann grading.Three types were divided based on FT charts of degenerated intervertebral disc.Intact type was noted in 135 discs,Pfirrmann Ⅱ level has a high percentage(92 discs,68.15％) in this type; Scrambled type was noted in 195 discs,Pfirrmann Ⅲ and Ⅳ level were accounted for 63.07％ (123 discs) ; Conglomerate type was noted in 98 discs,the Pfirrmann Ⅳ and Ⅴ level were accounted for 83.68％ (82 discs) (Mantel-Haenszel test,x2 =183.90,P ＜ 0.01).Different annulus types had different MD and FA values.The median(range)of FA of complete,messy and clumps type fibrous ring were 0.32 (0.29-4.35),0.35 (0.33-0.38),0.54 (0.46-0.62).The corresponding median(range)of MD were 12.40(11.50-13.20) x 10-10,11.10(9.92-12.00) × 10-10,6.30(5.03-7.72) × 10-10 mm2/s.Scrambled annulus fibers had lower MD values and higher FA values,which had significant difference (x2 =219.74,243.88,P ＜0.01).Conclusions DTI is a non-invasive method to assess intervertebral disc structural changes in vivo.MD and FA values are helpful to evaluate the intervertebral disc degeneration.