Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.

Hereditary hearing loss is one of the most common sensory disabilities worldwide. Mutation of POU domain class 4 transcription factor 3 (POU4F3) is considered the pathogenic cause of autosomal dominant nonsyndromic hearing loss (ADNSHL), designated as autosomal dominant nonsyndromic deafness 15. In this study, four novel variants in POU4F3, c.696G>T (p.Glu232Asp), c.325C>T (p.His109Tyr), c.635T>C (p.Leu212Pro), and c.183delG (p.Ala62Argfs∗22), were identified in four different Chinese families with ADNSHL by targeted next-generation sequencing and Sanger sequencing. Based on the American College of Medical Genetics and Genomics guidelines, c.183delG (p.Ala62Argfs∗22) is classified as a pathogenic variant, c.696G>T (p.Glu232Asp) and c.635T>C (p.Leu212Pro) are classified as likely pathogenic variants, and c.325C>T (p.His109Tyr) is classified as a variant of uncertain significance. Based on previous reports and the results of this study, we speculated that POU4F3 pathogenic variants are significant contributors to ADNSHL in the East Asian population. Therefore, screening of POU4F3 should be a routine examination for the diagnosis of hereditary hearing loss.

[The application of acoustic pharyngometry in diagnosis and treatment of OSAHS].

Obstructive sleep apnea-hypopnea syndrome (OSAHS) is a common clinical disease that seriously threatens human health and life. Accurate location of the upper airway obstruction is the key to the diagnosis and treatment of OSAHS. Acoustic pharyngometry uses sound reflection to quickly assess the cross-sectional area and volume of the upper airway. Acoustic pharyngometry represents a simple, quick, non-invasive method for measuring upper airway dimensions which could predict sleep apnea risk. In this article we sought to introduce the application of acoustic pharyngometry in the diagnosis and treatment of OSAHS.

[Expression of heparanase on the squamous cell carcinoma of head and neck and its clinical significance].

OBJECTIVE: To investigate the relationship among expression of heparanase (HPSE), the clinical and pathologic characteristics of squamous carcinoma on head and neck and the patients' prognosis. METHODS: Sixty-two cases of postoperative tumor specimens were verified by immunohistochemistry S-P method and computer-assisted image analysis method was used. RESULTS: The expression of HPSE in normal epithelium mucosae of head and neck was negative or very weak; in tumor tissue was positive, mainly in cytoplasm and the positive rate was 69.3%. The expression of HPSE hadn't significant difference with the age of patients and pathologic grades of tumors (chi2 = 0.05, chi2 = 3.84, P > 0.05), but had it with clinical stages and metastatic lymph node lesions (chi2 = 3.96, chi2 = 8.06, P < 0.05). The relationship between expression of HPSE in primary tumors and that in metastatic lymph node lesions showed significantly positive correlation (r = 0.9162, P = 0.001). Both HPSE and TNM clinical stage of tumor had significant correlation with the prognosis of patients respectively (P < 0.05). Calculated by Kaplan-Meier method, the accumulative survival rate of 3 years in positive HPSE expression group (25.9%) was much lower than that in negative group (72.7%), there was a significant difference between them by Log-Rank test (chi2 = 11.607, P < 0.001). CONCLUSIONS: The expression of HPSE is significantly increased in squamous carcinomas of head and neck, mainly expressed in cytoplasm. The expression of HPSE has a close relationship with clinical stages and lymph node metastasis of squamous carcinoma on head and neck. The higher the clinical stage, the more manifest the expression of HPSE. The expression of HPSE and TNM clinical stage of tumor are independent factors affecting prognosis.