Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites / 临床耳鼻咽喉头颈外科杂志

Objective:To study the frequency of SLC26A4 gene mutation sites in children with enlarged vestibular aqueduct deafness in Yunnan, report the new mutation sites of SLC26A4 gene, further clarify the mutation spectrum of SLC26A4gene, and explore the association between biallelic and monoallelic mutations of SLC26A4 gene and CT phenotype of inner ear, so as to provide basis for clinical and genetic diagnosis of deafness. Methods:Review the results of temporal bone CT examination of 390 children after cochlear implantation in the Department of Otolaryngology, Kunming Children's Hospital from August 2016 to September 2021. Sanger sequencing of SLC26A4 gene was performed in 59 children with enlarged vestibular aqueduct. According to the genetic test results, the children who underwent temporal bone CT examination were divided into two groups: SLC26A4 biallelic mutation group（homozygous mutation and compound heterozygous mutation）, monoallelic mutation group, and the association with inner ear CT phenotype was analyzed, and the new sites were summarized and analyzed. Results:The c.919-2a>g mutation was the most common mutation in children with enlarged vestibular aqueduct with SLC26A4 gene mutation. Three new variants of SLC26A4 gene were found; CT examination combined with genetic testing found that a part of children with enlarged vestibular aqueduct was associated with SLC26A4 monoallelic mutation or no SLC26A4 gene mutation was detected. Further research is needed to investigate the involvement of other pathogenic factors in the pathogenesis of EVA.

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.

Analysis of genetic characteristics in two Chinese children of type Ⅱ Waardenburg syndrome / 中华耳鼻咽喉头颈外科杂志

Objective: To screen and analyze the mutations of MITF gene in two children of type Ⅱ Waardenburg syndrome (WS2) from different families in Yunnan,China,and to explore the possible molecular pathogenesis. Methods: With informed consent, medical history collection, physical examinations, audiological evaluation, and high resolution computer tomography (HRCT) scan of temporal bone were performed on the two WS2 probands and their family members. Genomic DNA was extracted from peripheral blood of all individuals. The coding regions including all exons, part of introns and promoters of MITF, PAX3, SOX10, SNAI2, END3, ENDRB, and KITLG genes were sequenced by high-throughput sequencing. According to the results of high-throughput sequencing, pathogenic mutations detected in the probands and their parents were verified by Sanger sequencing. Results: The proband 1 carried c.641_643delGAA mutation in the 7th exon of MITF gene, which was a frame-shift mutation resulting in an amino acid change of p.214delR. It was a de novo mutation as the parents of proband 1 showed no variation on this site. The proband 2 carried heterozygous loss of the large fragment ranging from exon 1 to exon 9 of MITF gene, which defected the function of MITF protein. Conclusion: Genetic examinations provide important evidence for diagnosis of Waardenburg syndrome. Heterozygous mutation c.641_643delGAA and heterozygous loss of the large fragment ranging from exon 1 to exon 9 of MITF gene might be the molecular pathogenesis of the two WS2 probands in this study.

Misdiagnosic analysis and treatment of pyriform sinus fistula in children / 中华耳鼻咽喉头颈外科杂志

Objective@#To discuss the misdiagnosis of pyriform sinus fistula and to better understand this kind of illness.@*Methods@#The analysis was based on twenty-eight patients with congenital pyriform sinus fistula aged from 11 months to 14 years, with the median age of 5 years, and who were surgically treated from January 2013 to January 2017 in Kunming Children′s Hospital.Twenty patients were misdiagnosed in other hospital.After the routine examination of neck ultrasound and enhanced CT, internal fistula was found by self-retaining laryngoscope, traced by methylene blue, and excised by high ligation.@*Results@#Twenty patients were misdiagnosed.The misdiagnosis time ranged from 6 months to 3 years.Under self-retaining laryngoscope, piriform fossa fistula were found in all patients.Nineteen fistula were found in the left and 1 in the right.The fistula in patients was unilateral.Seven cases were misdiagnosed as suppurative lymphadensitis, undergone abscess incisional drainage many times.Three cases were misdiagnosed as thyroglossal duct cyst and performed excision of thyroglossal duct cyst.One case was treated by extended Sistruck operation again because the doctor considered that excision of middle segment of hyoid bone was not enough and the fistula was not ligated completely.One case was misdiagnosed as second branchial cleft fistula on the right side of the neck.Nine cases were misdiagnosed as hyroid-associated diseases including 2 cases suppurative thyroiditis, 2 cases subacute thyroiditis and 5 cases thyroid neoplasms.Among them, 2 cases underwent partial thyroidectomy.All the patients were treated with high ligation of fistula under general anesthesia.The operation was smooth, and no hoarseness, bucking and pharyngeal fistula occurred after the operation.Postoperative follow-up time ranged from 12 months to 4 years and the median follow-up was 18 months without recurrence.The diagnosis was confirmed pathologically.@*Conclusions@#Pyriform sinus fistula in children was uncommon and easily misdiagnosed in clinic.The majority of physician including some otolaryngologists were lack of understanding of the disease.It should be regarded as one of the important differential diagnosis of neck mass in children.Children with recurrent left neck infection and/or abscess should be highly suspected.Self-retaining laryngoscopic examination can make a definite diagnosis and high ligation of the fistula through the external neck approach can achieve good therapeutic effect.

Sclerotherapy for faciocervical macrocystic lymphatic malformations in infants / 中华实用儿科临床杂志

Objective To investigate the therapeutic effect of Pingyangmycin combined with Triamcinolone Acetonide on the huge faciocervical lymphatic malformations (LMs) in infants.Methods Sixty-seven infants with LMs located in head and neck from January 2009 to June 2014 were retrospectively analyzed in Kunming Children's Hospital.Thirty-five males and 32 females were enrolled,aged from 1 month to 4 years,with a median age of 1.3 years.Computed tomography and ultrasonography were used to evaluate the location,size and extent of LMs before treatment in all the patients.The size of lesion varied from 5.2 cm ×7.5 cm to 9.2 cm × 10.5 cm.All patients were given local injection of Pingyangmycin combined with Triamcinolone Acetonide after puncturing fluid with uhrasonography guiding under general anesthesia.The injection was repeated every 30 d when necessary.Results The number of injections varied from 2 to 5 times,with a median number of 3.9 times.All cases were followed up for 5 to 36 months.Thirty-two cases (62.68％) were cured,improvement in 19 cases (28.36％) and no effect in 6 cases (8.96％).The total effective rate was 91.04％.There was no severe allergic reaction or pulmonary fibrosis.Secondary operation was performed after 6 months in 12 cases.Two post-operative complications were found,1 was minor paralyses of mandibular branch of facial nerve,with mouth askew,the other was trachyphonia,who were both improved after rehabilitation treatment.Conclusions In order to avoid serious complications,the huge LMs may be given local injection of Pingyangmycin combined with Triamcinolone Acetonide after puncturing fluid with ultrasonography guiding.Graded sclerotherapy provides for a less invasive and shorter course of treatment.The complications and risk of secondary resection increase slightly if sclerotherapy has no curative effect.

Diagnosis and treatment of faciocervical lymphatic malformations in infant / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To discuss the treatment effect of infant lymphatic malformations (LMs) located in the head and neck.</p><p><b>METHODS</b>Fourty-six LMs located in the head and neck between 2009 and 2013 were retrospectively analyzed. There were 26 males and 20 females, aged from 9 months to 4 years, with a median age of 1.8 years.</p><p><b>RESULTS</b>Phase Isurgical resection was performed in 28 cases. The low concentrations of pingyangmycin was injected in 18 cases, and Phase II surgical resection was performed in 6 cases after 6 months, because of the large tumors and a wide range of invasion. Two post-operative complications were found, one was minor paralyses of mandibular branch of facial nerve, manifestied as mouth askew. Another was injured accessory nerve, manifestied as right upper limb lifting weakness, which improved after rehabilitation treatment.</p><p><b>CONCLUSIONS</b>Surgical treatment is effective to LMs. In order to avoid serious complications, the huge LMs and microcystic LMs may be given local injection of pingyangmycin after puncture fluid, and phase II surgical resection secondly if necessary.</p>

Diagnosis and treatment of thyroglossal duct cyst in infants / 国际外科学杂志

Objective To explore the imageology features and curative effect of operation for thyroglossal duct cyst in infants.Methods CT and B-mode ultrasound features of 23 infant cases diagnosed as thyroglossal duct cyst were retrospectively analysed.The patients underwent classic Sistrunk operation.And ampliate Sistrunk operation was performed for those with postoperative recurrence.Results CT showed a cystic mass in the anterior triangle of neck,relevant to the hyoid bone and thyroid.B-mode ultrasound showed hypoechoic and heterogeneous image companied with posterior echo enhancement.None cyst had a solid component.Twenty-three cases got satisfied curative effect after repeat operation.There were no complications such as trachyphonia,bucking and dyspnea.Following up more than 2 years,no recurrence case occurred.Conclusions CT and B-mode ultrasound scan can help to make accurate diagnosis of the thyroglossal duct cyst,based on the special location and the typical manifestations.Thyroglossal cyst had high recurrence rate after operation.Sistrunk operation is the basic procedure for the complete removal of the thyroglossal cyst in infants.