Endonasal Transpterygoid Surgery for Adult Mature Teratoma in the Sphenoid Bone.

ABSTRACT: Teratomas are germline tumors commonly composed of multiple cell types derived from embryonic germ cell layers. Teratomas in head and neck region are exceptionally rare and present during the neonatal and infantile period. We describe a male adult with a mature teratoma originating from sphenoid body. A 24-year-old male patient presented with left-sided intermitted headache and facial numbness. Radiographic imaging showed a 3 cm × 2.3 cm mass with heterogeneous density in the sphenoid region. The endoscopic sphenoid sinus opening surgery was performed through endonasal transpterygoid approach. The final pathologic diagnosis was confirmed as mature teratoma. The patient has been followed-up for 18 months without recurrence. We suggest endonasal transpterygoid approach could be an effective and safe treatment for patients with mature teratoma in the sphenoid bone.

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.

BACKGROUND: MYH14 gene mutations have been suggested to be associated with nonsyndromic/syndromic sensorineural hearing loss. It has been reported that mutations in MYH14 can result in autosomal dominant nonsyndromic deafness-4A (DFNA4). METHODS: In this study, we examined a four-generation Han Chinese family with nonsyndromic hearing loss. Targeted next-generation sequencing of deafness genes was employed to identify the pathogenic variant. Sanger sequencing and PCR-RFLP analysis were performed in affected members of this family and 200 normal controls to further confirm the mutation. RESULTS: Four members of this family were diagnosed as nonsyndromic bilateral sensorineural hearing loss with postlingual onset and progressive impairment. A novel missense variant, c.5417C > A (p.A1806D), in MYH14 in the tail domain of NMH II C was successfully identified as the pathogenic cause in three affected individuals. The family member II-5 was suggested to have noise-induced deafness. CONCLUSION: In this study, a novel missense mutation, c.5417C > A (p.A1806D), in MYH14 that led to postlingual nonsyndromic autosomal dominant SNHL were identified. The findings broadened the phenotype spectrum of MYH14 and highlighted the combined application of gene capture and Sanger sequencing is an efficient approach to screen pathogenic variants associated with genetic diseases.

Erratum to "A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss".

[This corrects the article DOI: 10.1155/2016/1512831.].

A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.

POU4F3 gene encodes a transcription factor which plays an essential role in the maturation and maintenance of hair cells in cochlea and vestibular system. Several mutations of POU4F3 have been reported to cause autosomal dominant nonsyndromic hearing loss in recent years. In this study, we describe a pathogenic nonsense mutation located in POU4F3 in a four-generation Chinese family. Target region capture sequencing was performed to search for the candidate mutations from 81 genes related to nonsyndromic hearing loss in this family. A novel nonsense mutation of POU4F3, c.337C>T (p. Gln113⁎), was identified in a Chinese family characterized by late-onset progressive nonsyndromic hearing loss. The novel mutation cosegregated with hearing loss in this family and was absent in 200 ethnicity-matched controls. The mutation led to a stop codon and thus a truncated protein with no functional domains remained. Transient transfection and immunofluorescence assay revealed that the subcellular localization of the truncated protein differed markedly from normal protein, which could be the underlying reason for complete loss of its normal function. Here, we report the first nonsense mutation of POU4F3 associated with progressive hearing loss and explored the possible underlying mechanism. Routine examination of POU4F3 is necessary for the genetic diagnosis of hereditary hearing loss in the future.

Consideration of the Clinical Diagnosis of Allergic Fungal Sinusitis: A Single-Center Retrospective Study.

INTRODUCTION: Allergic fungal rhinosinusitis (AFRS) is characterized by refractory and high recurrence rate. Improper treatment may lead to repeated recurrence and even serious complications, including vision loss, blindness, and intracranial complications. However, AFRS is easy to be misdiagnosed clinically. OBJECTIVE: To ensure early diagnosis, the clinical presentations of patients with AFRS were studied. METHODS: Data from patients with sinusitis hospitalized in the First Affiliated Hospital of the University of Science and Technology of China (USTC) from January 2015 to October 2022 were collected. The patients were divided into three groups; group A patients with AFRS, group B patients suspected of AFRS, and group C patients with fungus ball sinusitis (FBS).We retrospectively analyzed the data using IBM SPSS 19.0 to perform the chi-square test and one-way ANOVA test. RESULTS: In total, 35 cases of AFRS, 91 cases of suspected AFRS, and 661 cases of FBS were rediagnosed. Compared with FBS patients, AFRS patients were younger, the total IgE, the percentage of eosinophils and basophils in peripheral blood were higher, and the proportion of patients with allergic rhinitis, asthma or hypo olfactory was higher. It had a higher recurrence rate. These results were also observed in the comparison between suspected AFRS patients and FBS patients, but no significant difference was found in the comparison between suspected AFRS patients and suspected AFRS patients. CONCLUSIONS AND SIGNIFICANCE: AFRS may be misdiagnosed due to the low detection of fungi. To ensure early diagnosis, we recommend that patients with clinical, radiological, and laboratory features similar to those of AFRS but without evidence of fungal staining be treated according to the treatment criteria of AFRS.