[Application of next generation sequencing in 3 Waardenburg syndrome].

Objective:To test the gene sequence of 3 patients with Waardenburg syndrome（WS） using the next generation sequencing technology in order to explore the possible mechanism of molecular genetics. Methods:Medical histories of the family members were collected. Physical examination, audiological evaluation and CT examination were performed. Peripheral blood was collected and DNA was extracted. The exon region of 159 deafness genes, 6 mitochondrial genes and 3 miRNAs of the proband were tested by next generation sequencing. The mutation sites of the possible pathogenic genes were obtained, subsequently, Sanger sequencing verification was performed on the proband and family members. Results:The first proband had a heterozygous mutation in exon 7 of MITF gene（NM_000248）: c.641_643delGAA; The second proband had a heterozygous mutation in exon 10 of MITF gene（NM_001354605）: c.1177-1G>A; The third proband had a heterozygous mutation in exon 5 of PAX3 gene（NM_181457）: c.587_593delCCTCAGC; The parents of the three probands verified by Sanger sequencing that there was no variation at the corresponding sites, and the above mutations were spontaneous mutations. Conclusion:Next generation sequencing can more comprehensively analyze information of the carried status and genetic rules of the disease-associated gene in WS families, and provide guidance for family reproductives.

Clinical curative effect and safety of balloon sinuplasty in children with chronic rhinosinusitis.

OBJECTIVE: Balloon Sinuplasty for the management of paranasal sinus inflammatory diseases was introduced in otolaryngology in 2005. Over the past decade, evidence strongly supports its safety and efficacy for the treatment of chronic rhinosinusitis (CRS) in adults. Because it requires no bone or tissue removal, this procedure could be suitable in children. We present our initial experience of its use for the treatment of CRS in children. MATERIALS AND METHODS: A prospective study was performed of 30 children with failed medical therapy, who were scheduled for surgery. They underwent treatment by balloon sinuplasty of selected sinuses. Data were collected, including age, VAS score, CT score, and nasal endoscopy findings. RESULTS: The procedure was successful in 61/65 sinuses (93.84%). Balloon sinuplasty improved sinus-related quality of life scores as well as computed tomography (CT) and endoscopic findings for up to 1 year after operation (p < 0.05). CONCLUSION: In this initial study, balloon sinuplasty showed a clinical curative effect in the treatment of children with refractory CRS, and was relatively safe. Structural abnormalities in sinus ostia and hypoplastic sinuses may not be amenable to balloon catheter sinuplasty.