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.

[Effect of zirconia abutment angulation on stress distribution in the abutment and the bone around implant: a finite element study].

PURPOSE: To investigate the effect of three different zirconia angular abutments on the stress distribution in bone and abutment using three-dimensional finite element analysis, and provide instruction for clinical application. METHODS: Finite element analysis (FEA) was applied to analyze the stress distribution of three different zirconia/titanium angular abutments and bone around implant. RESULTS: The maximum Von Minses stress that existed in abutment, bolt and bone of the angular abutment model was significantly higher than that existed in the straight abutment model. The maximum Von Minses stress that existed in abutment, bolt and bone of the 20 ° angular abutment model was significantly higher than that existed in 15 ° angular abutment model. There was no significant difference between zirconia abutment model and titanium abutment model. CONCLUSIONS: The abutment angulation has a significant influence on the stress distribution in the abutment, bolt and bone, and exacerbates as the angulation increases, which suggest that we should take more attention to the implant orientation and use straight abutment or little angular abutment. The zirconia abutment can be used safely, and there is no noticeable difference between zirconia abutment and titanium abutment on stress distribution.

[Evaluation of N2O inhalation and oral midazolam conscious sedation in pediatric dentistry of children with intellectual disability].

PURPOSE: To evaluate the effect of N2O inhalation and oral midazolam sedation on uncooperative patients with intellectual disability in pediatric dentistry. METHODS: N2O inhalation (35%-50%) and oral midazolam conscious sedation (dosages range: 0.50-0.75 mg/kg) were applied to 67 uncooperative pediatric patients with intellectual disability in outpatient department. The patients were divided into 2 groups: group A (N2O inhalation conscious sedation) and group B(oral midazolam conscious sedation).Treatment results and safety were statistically analyzed by Chi-square test with SPSSl3.0 software package. RESULTS: The mean success rate was 70%. The success rate in group B (75%) was higher than group A (67%). The overall incidence of adverse reactions was 13%(9/67). The adverse reaction rate in group B (25%) was significantly higher than group A (5%, P<0.05). CONCLUSIONS: N2O inhalation and oral midazolam conscious sedation are effective and safe in pediatric dental uncooperative patients with intellectual disability.

[Clinical study of sinus elevation by hydraulic and implant placement followed by bone graft simultaneously].

PURPOSE: To evaluate the clinical results and technique of sinus membrane hydraulic elevation followed by bone graft and implant placement simultaneously. METHODS: Twenty-five patients were involved in the study (male:15, female: 10, age: 40-62 yrs). The mean residual ridge was (4.25±1.12) mm. Clinical examination were performed and radiographs were taken to evaluated the outcomes. RESULTS: The mean elevated height was (8.50±2.12) mm and 25 implants were placed. Only one implant was lost due to infection 3 weeks after operation because of diabetes. Only minor complications were observed postoperatively in the remaining patients. Twenty-four patients were satisfactorily restored with the follow-up period of 12-18 months. CONCLUSIONS: The technique of sinus membrane hydraulic elevation followed by bone graft and implant placement simultaneously displays minor complication, minimal discomfort and excellent success rate.

Effect of cardiac resynchronization therapy on broad neurohormone biomarkers in heart failure.

BACKGROUND: Neurohormonal dysregulation contributes to heart failure (HF) progression. We sought to determine the effect of cardiac resynchronization therapy (CRT) on nerve growth factor (NGF), a biomarker that promotes the maturation and survival of sympathetic nerve endings, and amino-terminal propeptide of type III procollagen (PIIINP), a marker of type III collagen synthesis. METHODS: This prospective study consisted of 45 consecutive patients who received cardiac resynchronization therapy defibrillator for advanced HF and 20 healthy age-matched controls. New York Heart Association class, distance of 6-min walk, echocardiography and plasma concentrations of NGF, PIIINP, b-type natriuretic peptide (BNP), norepinephrine, and epinephrine were measured before and 6 months after CRT. Response to CRT was defined as 15% or greater reduction in left ventricular end-systolic volume index at 6-month follow-up. RESULTS: The baseline BNP (2.61 ± 0.51 vs. 1.53 ± 0.44 ug/L, P < 0.01) and PIIINP (0.88 ± 0.21 vs. 0.71 ± 0.14 µg/L, P = 0.01), but not other biomarkers, were elevated in HF compared to controls. Twenty-two of 45 patients (49%) responded to CRT. The responder group demonstrated significant decrease only in BNP level from 2.61 ± 0.51 to 2.31 ± 0.41 µg/L (P = 0.04) at 6-month follow-up, paralleling the clinical improvements. The baseline PIIINP, rather than the other biomarkers, was lower in CRT responders than non-responders (0.80 ± 0.20 vs. 0.96 ± 0.19 µg/L, P = 0.03). Univariate and multivariate analysis showed that less elevated plasma PIIINP level in HF might be an independent biomarker predicting better response to CRT (odds ratio = 0.20, 95% CI = 0.03-1.17, P = 0.07). CONCLUSION: The less elevated PIIINP level in HF, which is suggestive of a lesser amount of cardiac fibrosis, has a trend in association with a favorable response to CRT. Contrary to previous reports, NGF levels are not reduced during HF with optimal medical therapy, and there is no NGF rebound in CRT responders.